From 36431b63ee629a0657e37f283bf89e27114bf1d4 Mon Sep 17 00:00:00 2001 From: Nico Matentzoglu Date: Thu, 20 Jun 2024 12:27:15 +0300 Subject: [PATCH] Add EYE ERN workshop report This is adding a query for the ERN EYE workshop terms and the respective make goal to rerun it --- src/ontology/hp.Makefile | 3 + src/ontology/reports/eye-ern-workshop.tsv | 305 ++++++++++++++++++++++ src/sparql/report-eye-ern-workshop.sparql | 44 ++++ 3 files changed, 352 insertions(+) create mode 100644 src/ontology/reports/eye-ern-workshop.tsv create mode 100644 src/sparql/report-eye-ern-workshop.sparql diff --git a/src/ontology/hp.Makefile b/src/ontology/hp.Makefile index a9678d163..92b71a0c4 100644 --- a/src/ontology/hp.Makefile +++ b/src/ontology/hp.Makefile @@ -444,6 +444,9 @@ reports/count-phenotypes.tsv: $(SRC) reports/count-all.tsv: $(SRC) $(ROBOT) query -f csv -i $< --query ../sparql/count-all.sparql $@ +reports/eye-ern-workshop.tsv: $(SRC) + $(ROBOT) query -f tsv -i $< --query ../sparql/report-eye-ern-workshop.sparql $@ + reports/count-synonyms.tsv: $(SRC) $(ROBOT) query -f csv -i $< --query ../sparql/count-synonyms.sparql $@ diff --git a/src/ontology/reports/eye-ern-workshop.tsv b/src/ontology/reports/eye-ern-workshop.tsv new file mode 100644 index 000000000..2afd0a36e --- /dev/null +++ b/src/ontology/reports/eye-ern-workshop.tsv @@ -0,0 +1,305 @@ +?entity ?entity_label ?definition ?definition_sources ?parents ?synonyms ?comment + "Retrobulbar optic neuritis" "Optic neuritis that occurs in the section of the optic nerve located behind the eyeball." "https://orcid.org/0009-0006-4530-3154" "Optic neuritis (HP:0100653)" "Retrobulbar neuritis" + "Peripheral cystoid retinal degeneration" "Degenerative changes of the peripheral retina consisting of close-packed tiny cystic spaces at the outer plexiform/inner nuclear retinal level. The degeneration is very common in adult eyes and starts adjacent to the ora serrata and extends circumferentially and posteriorly." "https://orcid.org/0000-0003-0986-4123" "Peripheral retinal degeneration (HP:0007769)" "Peripheral cystoid degeneration, Cystic retinal degeneration" + "Hypertensive retinopathy" "Abnormal retinal vascular morphology (HP:0008046)" + "Fundus albipunctatus" "Congenital stationary night blindness with abnormal fundus (HP:0030639), Retinal flecks (HP:0012045)" + "Retinal neovascularization" "In wound repair, neovascularization (NV) involves the sprouting of new vessels from pre-existent vessels to repair or replace damaged vessels. In the retina, NV is a response to ischemia. The NV adheres to the inner surface of the retina and outer surface of the vitreous. NV are deficient in tight junctions and hence leak plasma into surrounding tissue including the vitreous. Plasma causes the vitreous gel to degenerate, contract, and eventually collapse which pulls on the retina. Since retinal NV is adherent to both retina and vitreous, as the vitreous contracts the NV may be sheared resulting in vitreous hemorrhage or the NV may remain intact and pull the retina with the vitreous resulting in retinal elevation referred to as traction retinal detachment." "PMID:23329331" "Abnormal retinal vascular morphology (HP:0008046)" "Retinal neovascularisation" "When traction retinal detachment involves the macula, which is responsible for reading and driving vision, severe visual loss occurs." + "Cystoid macular edema" "Cystoid macular edema (CME) is any type of macular edema that involves cyst formation." "HPO_CONTRIBUTOR:DDD_ncarter" "Macular edema (HP:0040049)" "Cystoid macular edema" "CME can occur with Irvine-Gass syndrome and other disorders." + "Multifocal subretinal deposits" "Deposits accumulating between the outer retina and the retinal pigment epithelium and that are distributed with multiple foci." "Subretinal deposits (HP:0031528)" + "Retinopathy of prematurity stage 4a" "A detachment that involves the peripheral retina that does not extend into the macula." "ISBN:978-3-319-52190-9" "Retinopathy of prematurity stage 4 (HP:0500053)" "ROP stage 4a" + "Retinal arteriolar constriction" "Decreased retinal arteriolar diameters, which may decrease blood flow and slow oxygen delivery to regions of the retina." "https://orcid.org/0000-0002-0736-9199" "Abnormal retinal artery morphology (HP:0000630)" "Narrow retinal arterioles, Constricted retinal arterioles, Retinal arteriolar narrowing" "Usually after the first branch, the retinal arteries contain no elastic fibers and the term retinal arteriole is more appropriate. The main changes seen in diseases such as hypertension affect mainly the retinal arterioles rather than the retinal artery." + "Retinal dots" "Yellow, white or grayish lesions in the retina that are well-defined/distinct, individual and mostly uniform in size." "https://orcid.org/0000-0003-0986-4123" "Yellow/white lesions of the retina (HP:0030506)" + "Retinopathy of prematurity zone III" "Retinopathy which is a residual crescent of retina anterior to zone II." "PMID:16009843, ISBN:978-3-319-52190-9" "Retinopathy of prematurity (HP:0500049)" "ROP zone III" + "Rhegmatogenous retinal detachment" "A type of retinal detachment associated with a retinal tear, that is, with a break in the retina that allows fluid to pass from the vitreous space into the subretinal space between the sensory retina and the retinal pigment epithelium." "https://orcid.org/0000-0002-0736-9199" "Retinal detachment (HP:0000541)" + "Intraretinal hemorrhage" "A subtype of fundus hemorrhage occurring within the neurosensory retina. Intraretinal hemorrhages may be 'dot' or' blot' shaped or flame shaped depending upon their depth within the retina." "https://orcid.org/0000-0003-0986-4123" "Retinal hemorrhage (HP:0000573)" "Intraretinal haemorrhage" "Although the fundoscopic appearance of an intraretinal hemorrhage can exibit significant variability it can typically be distinguished from a subretinal hemorrhage (occurring between the neurosensory retina and the RPE) or a sub-ILM hemorrhage (occurring between the internal limiting membrane and the neurosensory retina)." + "Abnormal retinal artery morphology" "Abnormal retinal vascular morphology (HP:0008046), Abnormal systemic arterial morphology (HP:0011004), Abnormal head blood vessel morphology (HP:3000036)" "Abnormality of retinal arteries, Retinal arterial abnormality" + "Retinopathy of prematurity stage 4" "Scar tissue that forms a continuous sheet coming up from the edge of the vascularized retina. This scar tissue can grow toward the vitreous base/posterior lens capsule resulting in traction, distortion, and even detachment." "ISBN:978-3-319-52190-9" "Retinopathy of prematurity (HP:0500049)" "ROP stage 4" "Stage 4 can occur after treatment (unlike stages 1-3) and may be accelerated by the absence of vascular endothelial growth factor posttreatment leading to an accelerated cicatricial phase." + "Macular hyperpigmentation" "Increased amount of pigmentation in the macula lutea." "HPO_CONTRIBUTOR:DDD_ncarter" "Abnormality of macular pigmentation (HP:0008002)" + "Retinal vascular tortuosity" "The presence of an increased number of twists and turns of the retinal blood vessels." "https://orcid.org/0000-0002-0736-9199" "Abnormal retinal vascular morphology (HP:0008046)" "Tortuous retinal vessels" + "Leber optic atrophy" "Degeneration of retinal ganglion cells and their axons." "https://orcid.org/0000-0002-0736-9199" "Abnormal optic nerve morphology (HP:0000587)" "Leber optic atrophy features, Leber optic degeneration" + "Nonarteritic anterior ischemic optic neuropathy" "An acute condition characterized by sudden visual loss (usually discovered in the morning), optic disc edema at onset, optic disc-related visual field defects. Nonarteritic anterior ischemic optic neuropathy can be associated with flame hemorrhages on the swollen disk or nearby neuroretinal layer, and sometimes with nearby cotton-wool exudates." "PMID:17698200, https://orcid.org/0000-0002-0736-9199" "Optic neuropathy (HP:0001138)" "Nonarteritic anterior ischaemic optic neuropathy" "Nonarteritic anterior ischemic optic neuropathy is caused by infarction of the laminar or retrolaminar portion of the optic nerve head supplied by the short posterior ciliary arteries. Clinically NAION is characterized by sudden, usually painless, loss of vision in one or both eyes. Examination findings include decreased visual acuity, a visual field defect, decreased color vision, a relative afferent pupillary defect, and optic disc swelling." + "Central retinal exudate" "Retinal exudate (HP:0001147)" + "Aplasia/Hypoplasia of the optic nerve" "Abnormal optic nerve morphology (HP:0000587), Aplasia/Hypoplasia affecting the fundus (HP:0008057)" "Absent/small optic nerve, Absent/underdeveloped optic nerve" + "Retinopathy of prematurity stage 2" "The accumulating neovascularization thickens and manifests as a linear bump. The neovascularization remains along the surface of the retina and does not extend off the retina into the cortical vitreous." "ISBN:978-3-319-52190-9" "Retinopathy of prematurity (HP:0500049)" "ROP stage 2" + "Abnormal chorioretinal morphology" "An abnormality of the choroid and retina." "https://orcid.org/0000-0002-0736-9199" "Abnormal choroid morphology (HP:0000610), Abnormal retinal morphology (HP:0000479)" "Chorioretinal abnormality" "The choroid is the vascular layer of the eye, located between the retina and the sclera." + "Retinal nerve fiber edema" "Swelling (edema) of the retinal nerve fibers." "Abnormal retinal nerve fiber layer morphology (HP:0020119)" "Retinal nerve fibre oedema" + "Peripheral retinal degeneration" "Retinal degeneration (HP:0000546)" + "Choroidal neovascularization" "Choroidal neovascularization (CNV) is the creation of new blood vessels in the choroid layer of the eye." "HPO_CONTRIBUTOR:DDD_ncarter" "Abnormal morphology of the choroidal vasculature (HP:0025568), Abnormal macular morphology (HP:0001103)" "Choroidal neovascular membrane" "This is a common symptom of the degenerative maculopathy wet age-related macular degeneration." + "Retinopathy of prematurity" "An avascular or abnormally vascularized retina that occurs in premature infants and can lead to blindness." "PMID:16009843, ISBN:978-3-319-52190-9" "Retinopathy (HP:0000488)" + "Abnormal morphology of the choroidal vasculature" "Abnormal choroid morphology (HP:0000610)" + "Congenital stationary night blindness" "A nonprogressive (i.e., stationary) form of difficulties with night blindness with congenital onset." "https://orcid.org/0000-0002-0736-9199" "Nyctalopia (HP:0000662), Retinal dystrophy (HP:0000556)" "Night blindness since birth, Congenital night blindness, Static congenital hemeralopia" "Congenital stationary night blindness is prinicipally the result of dysfunction of the rod photoreceptors." + "Retinopathy of prematurity threshold" "A retinopathy with a 50% likelihood of progressing to retinal detachment. Threshold disease is considered to be present when stage 3 retinopathy of prematurity (ROP) is present in either zone I or zone II, with at least 5 continuous or 8 total clock hours of disease, and the presence of plus disease." "ISBN:978-3-319-52190-9" "Retinopathy of prematurity (HP:0500049)" "ROP threshold" + "Retinal detachment" "Separation of the inner layers of the retina (neural retina) from the pigment epithelium." "https://orcid.org/0000-0002-0736-9199" "Abnormal retinal morphology (HP:0000479)" "Detached retina, Retinal detachment" + "Choriocapillaris atrophy" "Atrophy of the capillary lamina of choroid." "https://orcid.org/0000-0002-0736-9199" "Chorioretinal atrophy (HP:0000533)" + "Geographic atrophy" "Sharply demarcated area of partial or complete depigmentation of the fundus reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss. The margins of the de-pigmented area are usually scalloped and the large choroidal vessels are visible through the atrophic retinal pigment epithelium." "PMID:24158023, https://orcid.org/0000-0003-0986-4123" "Retinal atrophy (HP:0001105)" + "Ophthalmic artery occlusion" "A partial or complete obstruction of the ophthalmic artery (branch of the internal carotid artery) that may lead to severe ischemia of the affected globe and associated ocular tissues. It can present with a similar picture to central retinal artery occlusion; however, profound choroidal ischaemia also occurs." "PMID:30148234, https://orcid.org/0000-0003-0986-4123" "Retinal arterial occlusion (HP:0025326)" + "Macular crystals" "Crystalline deposits in the macula." "Yellow/white lesions of the macula (HP:0030500)" + "Choroideremia" "Abnormal choroid morphology (HP:0000610)" + "Exudative retinopathy" "Retinal exudate (HP:0001147)" + "Vitreomacular traction" "Vitreomacular traction is characterized by anomalous posterior vitreous detachment accompanied by anatomic distortion of the fovea, which may include pseudocysts, macular schisis, cystoid macular edema, and subretinal fluid. Vitreomacular traction can be subclassified by the diameter of vitreous attachment to the macular surface as measured by OCT, with attachment of 1500 micrometers or less defined as focal and attachment of more than 1500 micrometers as broad." "PMID:24053995" "Abnormal macular morphology (HP:0001103)" "VMT" + "Retinopathy of prematurity stage 5" "Funnel detachment from the retina with generally traction in all four quadrants." "ISBN:978-3-319-52190-9" "Retinopathy of prematurity (HP:0500049)" "ROP stage 5" + "Macular exudate" "Yellow-white intraretinal deposits in the macula typically associated with damaged outer blood-retina barrier and exudation of serous fluid and lipids from the retinal microvasculature." "https://orcid.org/0000-0003-0986-4123" "Abnormality morphology of the macular vasculature (HP:0030495)" "Macular exudation, Macular exudates" + "Snowflake vitreoretinal degeneration" "The appearance of yellow/white crystalline-like (hence the name) spots in the retina and thickening of the peripheral part of the vitreous." "PMID:18179896, HPO_CONTRIBUTOR:DDD_ncarter" "Vitreoretinopathy (HP:0007773), Peripheral retinal degeneration (HP:0007769)" "Snowflake retinal degeneration" + "Retinopathy of prematurity stage 1" "The retinal vessels stop and then a linear flat white line is present that usually runs the circumference of the vascular retina." "PMID:16009843, ISBN:978-3-319-52190-9" "Retinopathy of prematurity (HP:0500049)" "ROP stage 1" + "Increased vertical cup-to-disc ratio - 0.6" "Ratio of the height of the cup of the optic nerve head to the height of the disk is 0.6 (The normal cup-to-disc ratio is 0.3)." "https://orcid.org/0000-0003-0986-4123" "Increased vertical cup-to-disc ratio (HP:0031973)" + "Macular dystrophy" "Macular dystrophy is a nonspecific term for premature retinal cell aging and cell death, generally confied to the macula in which no clear extrinsic cause is evident." "https://orcid.org/0000-0002-0736-9199" "Abnormal macular morphology (HP:0001103), Retinal dystrophy (HP:0000556)" + "Absent foveal reflex" "Lack of the foveal reflex, which normally occurs as a result of the reflection of light from the ophthalmoscope in the foveal pit upon examination. The foveal reflex is a bright pinpoint of light that is observed to move sideways or up and down in response to movement of the opthalmoscope." "PMID:27491360, https://orcid.org/0000-0002-0736-9199" "Abnormal foveal morphology (HP:0000493)" "Loss of foveal reflex, Foveal reflex absent" "Absence of the foveal reflex can occur with macular edema, central serous retinopathy, or other macular abnormalities such as macular dystrophy. The macular reflex is often less pronounced in adults than in children, and may be absent in otherwise normal eyes of older individuals." + "Inferior retinal coloboma" "A notch or cleft of the lower part of the retina." "Retinal coloboma (HP:0000480)" + "Extrafoveal choroidal neovascularization" "A type of choroidal neovascularization in which the nearest edge of the area of neovascularization is located 200 to 1500 micrometers from the center of the fovea." "Choroidal neovascularization (HP:0011506)" + "Abnormality of macular pigmentation" "Abnormality of macular or foveal pigmentation." "HPO_CONTRIBUTOR:DDD_ncarter" "Abnormal macular morphology (HP:0001103)" + "Foveal depigmentation" "Loss of pigment in the fovea centralis." "PMID:24023426" "Foveal hypopigmentation (HP:0012643)" + "Vitreomacular adhesion" "Perifoveal vitreous separation with remaining vitreomacular attachment and unperturbed foveal morphologic features. It is an OCT finding that is almost always the result of normal vitreous aging, which may lead to pathologic conditions." "PMID:24053995" "Abnormal macular morphology (HP:0001103)" "VMA" + "Fundus hemorrhage" "Bleeding within the fundus of the eye." "Abnormal fundus morphology (HP:0001098)" "Fundus haemorrhage" + "Vitelliform-like retinal lesions" "Yellow/white lesions of the retina (HP:0030506)" + "Retinal arteriolar occlusion" "Blockage of retinal arteriole, generally associated with interruption of blood flow and oxygen delivery to affected regions of the retina." "https://orcid.org/0000-0002-0736-9199" "Arterial stenosis (HP:0100545), Abnormal retinal artery morphology (HP:0000630)" "Blocked retinal artery" + "Dalen Fuchs nodules" "Nodules (yellow-white subretinal pigment epithelium lesions) that form between Bruch's membrane and the retinal pigment epithelium." "PMID:35145783" "Yellow/white lesions of the retina (HP:0030506)" "Dalen Fuchs nodules may be observed with Sympathetic ophthalmia, a rare, severe condition that typically presents as bilateral diffuse granulomatous uveitis secondary to trauma in one eye." + "Aplasia/Hypoplasia of the fovea" "Congenital absence or underdevelopment of the fovea centralis." "https://orcid.org/0000-0002-0736-9199" "Aplasia/Hypoplasia of the macula (HP:0008059), Abnormal foveal morphology (HP:0000493)" "Absent/underdeveloped fovea" + "Optic disc pallor" "A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression." "https://orcid.org/0000-0002-0736-9199" "Abnormal optic disc morphology (HP:0012795)" "Pale optic disc" "Optic disc pallor can be judged clinically with serial color photographs or by comparison to the other eye. The pallor reflects replacement of dead axons by glial tissue. The loss of the small capillaries within the nerve accounts for the shift from orange-pink to white." + "Congenital stationary night blindness with abnormal fundus" "Congenital stationary night blindness (HP:0007642)" + "Foveoschisis" "Splitting of the retinal layers in the macula." "https://orcid.org/0000-0002-0736-9199" "Abnormal foveal morphology (HP:0000493), Retinoschisis (HP:0030502)" "Retinoschisis involving the fovea" + "Subfoveal choroidal neovascularization" "A type of choroidal neovascularization in which the area of neovascularization overlaps with the center of the fovea." "Choroidal neovascularization (HP:0011506)" + "Retinopathy of prematurity prethreshold" "High risk patients who were in Zone 1 (no Plus or stage 3) or Zone 2 with Plus or stage 3 but not both." "ISBN:978-3-319-52190-9" "Retinopathy of prematurity (HP:0500049)" "ROP prethreshold" + "Multifocal sub-RPE deposits" "Deposits accumulating between the retinal pigment epithelium and Bruch's membrane and that are distributed in multiple foci." "Sub-RPE deposits (HP:0031531)" + "Retinal thinning" "Reduced anteroposterior thickness of the retina. This phenotype can be appreciated by retinal optical coherence tomography (OCT)." "https://orcid.org/0000-0002-0736-9199" "Abnormal retinal morphology (HP:0000479)" "Retinal thinning" + "Small yellow foveal lesion with surrounding gray zone" "A lesion that is observed following light damage to the macula. Damage to the retinal by exposure to intense visible light, usually the sun. Intense light exposure such as staring at the sun causes fine structural anomalies in the outer segments of the photoreceptors and the retinal pigment epithelium (RPE) cells of the macula. Symptoms usually develop within 1 to 4 h after exposure and include decreased vision, metamorphopsia, micropsia, and central or paracentral scotomas. Fundus examination typically shows a small yellow spot with a surrounding gray zone in the foveolar or parafoveolar area. Spontaneous evolution leads to the improvement of visual acuity." "PMID:28611647, PMID:25323644, https://orcid.org/0000-0002-2244-7917" "Yellow/white lesions of the macula (HP:0030500)" "Small yellow foveal lesion with surrounding grey zone" + "Macular edema" "Thickening of the retina that takes place due to accumulation of fluid in the macula as a nonspecific response to blood-retinal barrier breakdown. Macular edema is a common pathological response to a wide variety of ocular insults, most commonly after intraocular (e.g. cataract) surgery or in association with retinal vascular (e.g. diabetic eye disease, retinal vein occlusion) or inflammatory (e.g. uveitis) disease." "https://orcid.org/0000-0003-0986-4123" "Macular thickening (HP:0030498), Edema (HP:0000969)" "Macular oedema" + "Reticular retinal dystrophy" "A type of of patterned retinal dystrophy that shows a reticular pattern of pigmentation." "Pattern dystrophy of the retina (HP:0007963)" + "Exudative retinal detachment" "A type of retinal detachment arising from damage to the outer blood-retinal barrier that allows fluid to access the subretinal space and separate the neurosensory retina from the retinal pigment epithelium." "https://orcid.org/0000-0003-0986-4123, https://orcid.org/0000-0002-0736-9199" "Retinal detachment (HP:0000541)" "Serous retinal detachment" + "Retinal racemose hemangioma" "Retinal hamartoma (HP:0009594)" "Retinal racemose haemangioma" + "Subretinal hemorrhage" "Accumulation of blood located beneath the neurosensory retina in the space between the neurosensory retina and the retinal pigment epithelium." "Retinal hemorrhage (HP:0000573)" "Subretinal heme, Subretinal haemorrhage" "Subretinal hemorrhages are located deep in the retina, displaying a dark coloration with the retinal vessels clearly visible above. Subretinal hemorrhages tend not to be well delineated because of the lack of firm attachments between the neurosensory retina and the retinal pigment epithelium, allowing the blood to spread." + "Macular atrophy" "Well-demarcated area(s) of partial or complete depigmentation in the macula, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss." "https://orcid.org/0000-0003-0986-4123" "Retinal atrophy (HP:0001105), Macular degeneration (HP:0000608)" + "Submacular hemorrhage" "Bleeding between the neurosensory retina and the retinal pigment epithelium (RPE) arising from the choroidal or retinal circulation." "PMID:23202390, https://orcid.org/0000-0003-0986-4123" "Macular hemorrhage (HP:0025574), Subretinal hemorrhage (HP:0025243)" "Sub-macular hemorrhage, Submacular haemorrhage, Sub-macular haemorrhage" + "Subretinal deposits" "Deposits accumulating between the outer retina and the retinal pigment epithelium." "Abnormal retinal morphology (HP:0000479)" + "Chorioretinal hyperpigmentation" "Abnormality of chorioretinal pigmentation (HP:0007661)" + "Retinal infarction" "Abnormal retinal morphology (HP:0000479)" + "Increased cup-to-disc ratio" "An elevation in the ratio of the diameter of the cup of the optic disc to the total diameter of the disk. The optic disc has an orange-pink rim with a pale center (the cup) that does not contain neuroretinal tissue. An increase in this ratio therefore may indicate a decrease in the quantity of healthy neuroretinal cells." "PMID:23557744, https://orcid.org/0000-0002-0736-9199" "Abnormal optic disc morphology (HP:0012795)" "Elevated cup to disk ratio, Elevated cup to disc ratio, Increased cup disk ratio, Optic cupping, Increased cup disc ratio" "A cup to disk ratio of 0.3 is generally considered normal. Note that the ratio is measured in the vertical orientation unless otherwise specified." + "Epiretinal membrane" "An epiretinal membrane is a thin sheet of fibrous tissue that can develop on the surface of the macular area of the retina and cause a disturbance in vision. An epiretinal membrane area can develop on the thin macular area of the retin. An epiretinal membrane is also sometimes called a macular pucker, premacular fibrosis, surface wrinkling retinopathy or cellophane maculopathy." "https://orcid.org/0009-0006-4530-3154" "Macular thickening (HP:0030498)" "Macular pucker, Premacular fibrosis" + "Retinal peau d'orange" "A pebbly orange appearance of the fundus that is said to resemble the skin of an orange." "PMID:25526100" "Abnormal retinal morphology (HP:0000479)" "Retinal peau d'orange is a common finding in pseudoxanthoma elasticum." + "Increased vertical cup-to-disc ratio - 0.8" "Ratio of the height of the cup of the optic nerve head to the height of the disk is 0.8 (The normal cup-to-disc ratio is 0.3)." "https://orcid.org/0000-0003-0986-4123" "Increased vertical cup-to-disc ratio (HP:0031973)" + "Macular hemorrhage" "Bleeding occurring within the macula lutea of the retina." "Abnormal macular morphology (HP:0001103), Retinal hemorrhage (HP:0000573)" "Macular haemorrhage" + "Birdshot retinochoroidopathy" "Multiple cream-yellow colored hypopigmented lesions typically located at the level of the choroid or retinal pigment epithelium; ovoid, cream-colored with indistinct borders. They are between 50 and 1,500 micrometers in size with a characteristic nasal, radial distribution in the postequatorial fundus." "PMID:33845003, PMID:25667738, https://orcid.org/0000-0001-9114-8737" "Abnormal choroid morphology (HP:0000610)" "Birdshot lesions, Birdshot laesions, Birdshot choroidal lesions" + "Flame-shaped retinal hemorrhage" "A type of retinal hemorrhage that is located within the nerve fiber layer (NFL) of the retina and that exhibits a characteristic flame shape which results from constraints by the structure of the NFL (axons of the ganglion cells)." "Intraretinal hemorrhage (HP:0031805)" "Flame-shaped retinal haemorrhage, Linear retina heme, Feathered retinal heme" "Flame-shaped hemorrhages are typically located in the posterior pole and tend to resolve within around six weeks. THeir pathophysiology is thought to reflect ischemic leakage from arterioles or veins that are ischemic or, in the case of veins, under high pressure." + "Foveal hypopigmentation" "Decreased amount of pigmentation in the fovea centralis." "https://orcid.org/0000-0002-0736-9199" "Abnormality of foveal pigmentation (HP:0030493)" + "Subretinal fluid" "Edema/fluid accumulating between the retinal pigment epithelium and Bruch's membrane." "Abnormal retinal morphology (HP:0000479)" "Sub-retinal fluid" + "Combined hamartoma of the retinal pigment epithelium and retina" "Retinal hamartoma (HP:0009594)" + "Retinal pigment epithelial atrophy" "Atrophy (loss or wasting) of the retinal pigment epithelium observed on fundoscopy or fundus imaging." "https://orcid.org/0000-0002-0736-9199" "Retinal atrophy (HP:0001105)" + "Beaten bronze macular sheen" "A shiny appearance of the macula, which is often called a beaten bronze appearance." "Abnormality of macular pigmentation (HP:0008002)" "Beaten-bronze macular sheen, Beaten-bronze macular appearance, Beaten metal macular appearance" "This feature may be seen in Stargardt disease." + "Optic neuritis" "Inflammation of the optic nerve." "https://orcid.org/0009-0006-4530-3154" "Abnormal optic nerve morphology (HP:0000587), Neuroinflammation (HP:0033429)" "Optic neuritis can cause loss of vision because of swelling and destruction of the myelin sheath covering the optic nerve and/or direct axonal damage." + "Dull foveal reflex" "Reduced brightness of the foveal reflex, which normally is a bright pinpoint of light that is observed to move sideways or up and down in response to movement of the opthalmoscope." "Abnormal foveal morphology (HP:0000493)" "Decreased foveal light reflex, Muted foveal light reflex, Poor foveal light reflex" "A dull foveal reflex is an unusual reflex of the foveal region on fundoscopy that may indicate hypoplasia of the fovea." + "Abnormality morphology of the macular vasculature" "Any structural anomaly of the blood vessels of the macula." "Abnormal macular morphology (HP:0001103)" "Abnormality of macular vasculature" + "Multiple bilateral congenital hypertrophy of retinal pigment epithelium" "Sharply demarcated hyperpigmentation which is congenital." "https://orcid.org/0000-0001-8727-6592" "Congenital hypertrophy of retinal pigment epithelium (HP:0007649)" "Multiple bilateral CHRPE" "Bilateral multiple CHRPE is strongly associated with familial adenomatous polyposis coli." + "Aplasia of the retina" "A developmental defect characterized by absence of the retina." "https://orcid.org/0000-0002-0736-9199" "Aplasia/Hypoplasia of the retina (HP:0008061)" "Absent retina" + "Macular telangiectasia" "Abnormality morphology of the macular vasculature (HP:0030495), Retinal telangiectasia (HP:0007763)" "Parafoveal telangiectasia, Juxtafoveal telangiectasia" + "Congenital stationary night blindness with normal fundus" "Congenital stationary night blindness (HP:0007642)" + "Central retinal artery occlusion" "Blockage of the main artery in the retina. The typical presentation is one of profound monocular visual loss." "PMID:23470793" "Abnormality of central retinal artery (HP:3000032), Retinal arterial occlusion (HP:0025326)" "Central retinal artery occlusion canmanifest as sudden, acute, and painless loss of vision in one eye." + "Macular coloboma" "A congenital defect of the macula distinct from coloboma associated with optic fissure closure defects. Macular coloboma is characterized by a sharply defined, rather large defect in the central area of the fundus that is oval or round, and coarsely pigmented." "PMID:15069441, https://orcid.org/0000-0001-8727-6592" "Abnormal macular morphology (HP:0001103), Retinal coloboma (HP:0000480)" "Coloboma of the macula" + "Mizuo phenomenon" "Change in the color of the fundus from red in the dark-adapted state to golden immediately or shortly after the onset of the light. The color of the fundus reflex in the light adapted state has also been described as golden-yellow, gray-white, and yellow-white. This reflex can appear either homogeneous or in streaks in the fundus. The retinal vessels appear to be protruding in contrast to the radiant background. Dark adaptation leads to disappearance of the unusual fundus coloration [Digital Journal of Ophthalmology 2008; Volume 14, Number 14]." "https://orcid.org/0000-0002-0736-9199" "Abnormal fundus morphology (HP:0001098)" "Mizuo-Nakamura phenomenon" + "Peripapillary chorioretinal atrophy" "Chorioretinal atrophy concentrated around the optic papilla (i.e., the optic nerve head)." "https://orcid.org/0000-0002-0736-9199" "Chorioretinal atrophy (HP:0000533)" + "Abnormal optic chiasm morphology" "A structural abnormality of the optic chiasm.The optic chiasm, located below the hypothalamus, is a partial crossing of the optic nerves." "Abnormal optic nerve morphology (HP:0000587)" "Abnormality of optic chiasm morphology" + "Macular hypoplasia" "Underdevelopment of the macula lutea." "https://orcid.org/0000-0002-0736-9199" "Aplasia/Hypoplasia of the macula (HP:0008059)" + "Incomplete congenital stationary night blindness" "Congenital stationary night blindness with normal fundus (HP:0030638)" + "Sectoral retinitis pigmentosa" "A variant of retinitis pigmentosa in which there is a regional distribution of the retinal degeneration." "Rod-cone dystrophy (HP:0000510)" + "Tractional retinal detachment" "A type of retinal detachment arising due to a combination of contracting retinal membranes, abnormal vitreoretinal adhesions, and vitreous changes. It is usually seen in the context of diseases that induce a fibrovascular response, e.g. diabetes." "ISBN-13:978-0199679980, https://orcid.org/0000-0002-0736-9199" "Retinal detachment (HP:0000541)" + "Optic disc drusen" "Optic disc drusen are acellular, calcified deposits within the optic nerve head. Optic disc drusen are congenital and developmental anomalies of the optic nerve head, representing hyaline-containing bodies that, over time, appear as elevated, lumpy irregularities on the anterior portion of the optic nerve." "PMID:30524490, PMID:23658477, PMID:22787500, https://orcid.org/0000-0002-0736-9199" "Drusen (HP:0011510), Abnormal optic disc morphology (HP:0012795)" "Optic nerve head drusen" "Optic disc drusen can lead to an elevated disk and thus mimic disk swelling (pseudopapilledema)." + "Increased vertical cup-to-disc ratio - 0.9" "Ratio of the height of the cup of the optic nerve head to the height of the disk is 0.9 (The normal cup-to-disc ratio is 0.3)." "https://orcid.org/0000-0003-0986-4123" "Increased vertical cup-to-disc ratio (HP:0031973)" + "Central fundal arteriolar microaneurysms" "Microscopic aneurysms of the retinal arterioles near the central part of the fundus, visible as small round dark red dots on the retinal surface (not arising from visible vessels) that are by definition less than the diameter of the major optic veins as they cross the optic disc." "https://orcid.org/0000-0002-0736-9199" "Retinal microaneurysm (HP:0032416)" + "Branch retinal vein occlusion" "Blockage of a branch of the retinal vein. It may present with sudden-onset of painless vision loss or visual field defect correlating to the area of perfusion of the obstructed vessels." "PMID:30570991, https://orcid.org/0000-0003-0986-4123" "Retinal vein occlusion (HP:0012636)" + "Retinal dystrophy with early macular involvement" "Retinal dystrophy (HP:0000556)" + "Abnormal choroid morphology" "Any structural abnormality of the choroid." "https://orcid.org/0000-0002-0736-9199" "Abnormal uvea morphology (HP:0000553), Abnormal fundus morphology (HP:0001098)" "Abnormality of the choroid" + "Retinal calcification" "Deposition of calcium salts in the retina." "https://orcid.org/0000-0002-0736-9199" "Yellow/white lesions of the retina (HP:0030506), Ectopic calcification (HP:0010766)" + "Diffuse optic disc pallor" "A pale yellow discoloration of the entire optic disc." "PMID:19668477, https://orcid.org/0000-0002-0736-9199" "Optic disc pallor (HP:0000543)" "Temporal pallor is seen in conditions that selectively affect the papillo-macular bundle. The word temporal refers to the temporal bone at the side of the head." + "Abnormal foveal morphology" "An abnormality of the fovea centralis, the central area of the macula that mediates central, high resolution vision and contains the largest concentration of cone cells in the retina." "https://orcid.org/0000-0002-0736-9199" "Abnormal macular morphology (HP:0001103)" "Abnormality of the fovea" + "Abnormal macular morphology" "A structural abnormality of the macula lutea, which is an oval-shaped highly pigmented yellow spot near the center of the retina." "PMID:16255686, https://orcid.org/0000-0002-0736-9199" "Abnormal retinal morphology (HP:0000479)" "Macula abnormality, Macular abnormality, Abnormality of the macula" "The term macula derives from the presence of the xanthophyll pigments, lutein and zeaxanthin, in a region five to six millimeters in diameter at the posterior pole of the eye, appearing as a yellow spot (macula lutea), when viewed in red-free light." + "Optic atrophy from cranial nerve compression" "Cranial nerve compression (HP:0001293), Optic atrophy (HP:0000648)" + "Retinal perforation" "A small hole through the whole thickness of the retina." "https://orcid.org/0000-0002-0736-9199" "Abnormal retinal morphology (HP:0000479)" "Torn retina, Retinal tear" "Retinal perforations can be cause by inflammation, trauma, degeneration, or other factors, and comprise retinal breaks, tears, dialyses, and holes." + "Macular hole" "A macular hole is a small break in the macula, located in the center of the retina." "HPO_CONTRIBUTOR:DDD_ncarter" "Abnormal macular morphology (HP:0001103), Retinal perforation (HP:0011958)" + "Paravenous chorioretinal atrophy" "Chorioretinal atrophy along the retinal veins." "PMID:15623792, https://orcid.org/0000-0002-0736-9199" "Chorioretinal atrophy (HP:0000533)" + "Patchy atrophy of the retinal pigment epithelium" "Wasting (atrophy) of the retinal pigment epithelium present in small, isolated areas." "Retinal pigment epithelial atrophy (HP:0007722)" + "Optic disc coloboma" "A cleft of the optic nerve that extends inferiorly." "PMID:16219745, https://orcid.org/0000-0002-0736-9199" "Coloboma (HP:0000589), Abnormal optic disc morphology (HP:0012795)" "Optic nerve coloboma, Optic disc coloboma, Coloboma of optic nerve" "A congenital, unilateral or bilateral congenital condition caused by incomplete closure of the embryonic fissure." + "Foveal degeneration" "Deterioration of the tissue of the fovea, i.e.,the region of sharpest vision within the macula of the retina." "Macular degeneration (HP:0000608), Abnormal foveal morphology (HP:0000493)" + "Chorioretinal atrophy" "Atrophy of the choroid and retinal layers of the fundus." "PMID:20224472, https://orcid.org/0000-0002-0736-9199" "Chorioretinal degeneration (HP:0200065)" "Chorioretinal thinning" "Choroidal sclerosis is a descriptive term applied to the ophthalmoscopic appearance of prominent white choroidal vessels in which the blood columns are not seen or are sheathed by white lines. Choroidal sclerosis is a term used to describe a group of genetically heterogeneous retinal dystrophies that share a common funduscopic phenotype of scalloped, well-circumscribed, and confluent chorioretinal atrophic lesions that extend beyond the macula. The term choroidal sclerosis was initially coined because of the sclerotic appearance of choroidal vessels which frequently appear white or light-yellow. However, histologic studies have demonstrated the term to be a misnomer as the principle abnormality is the loss of choriocapillaris, retinal pigment epithelium (RPE), and the outer retina in the absence of abnormal sclerotic changes in the choroidal vasculature. Therefore, we are making choroidal sclerosis a synonym of chorioretinal atrophy." + "Chorioretinitis" "An inflammation of the choroid and retina." "PMID:16196117, https://orcid.org/0000-0001-5208-3432" "Abnormal chorioretinal morphology (HP:0000532)" "Chorioretinitis is a form of posterior uveitis. Note that the term Chorioretinitis suggests that the origin of the process is predominantly in the choroid while Retinitis suggests that the process is mainly in the retina." + "Retinal arteritis" "Retinal vasculitis (HP:0025188), Arteritis (HP:0012089), Abnormal retinal artery morphology (HP:0000630)" + "Retinal pigment epithelial mottling" "Mottling (spots or blotches with different shades) of the retinal pigment epithelium, i.e., localized or generalized fundal pigment granularity associated with processes at the level of the retinal pigment epithelium." "https://orcid.org/0000-0002-0736-9199" "Abnormality of retinal pigmentation (HP:0007703)" "Salt and pepper retinal pigmentation, RPE irregularity, Salt and pepper retinopathy, RPE mottling, Retinal pigment epithelium irregularity, Focal hypopigmentation of the retinal pigment epithelium" + "Rod-cone dystrophy" "An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones." "PMID:20212494, https://orcid.org/0000-0002-0736-9199" "Retinal dystrophy (HP:0000556)" "Rod cone dystrophy, Retinitis pigmentosa" "Retinitis pigmentosa is a group of hereditary diseases of the eye. However, the term retinitis pigmentosa has also been used to describe the retinal findings characteristic of these diseases but also seen on other diseases such as Usher syndrome. It is preferable to describe the findings precisely if possible, but this term is kept for convenience." + "Chorioretinal degeneration" "Abnormal chorioretinal morphology (HP:0000532)" + "Retinal vascular malformation" "Abnormal retinal vascular morphology (HP:0008046)" + "Macular thickening" "Abnormal increase in retinal thickness in the macular area observed on fundoscopy or fundus imaging." "https://orcid.org/0000-0003-0986-4123" "Abnormal macular morphology (HP:0001103)" + "Increased vertical cup-to-disc ratio - 1.0" "Ratio of the height of the cup of the optic nerve head to the height of the disk is 1.0 (The normal cup-to-disc ratio is 0.3)." "https://orcid.org/0000-0003-0986-4123" "Increased vertical cup-to-disc ratio (HP:0031973)" + "Lattice retinal degeneration" "Peripheral retinal degeneration (HP:0007769)" + "Full-thickness macular hole" "Full-thickness macular hole (FTMH) is defined as a foveal lesion with interruption of all retinal layers from the internal limiting membrane to the retinal pigment epithelium. Full-thickness macular hole is primary if caused by vitreous traction or secondary if directly the result of pathologic characteristics other than vitreomacular traction. Full-thickness macular hole is subclassified by size of the hole as determined by OCT and the presence or absence of vitreomacular traction." "PMID:24053995" "Macular hole (HP:0011508)" "FTMH" + "Placoid macular lesion" "Yellow/white, sharply delineated lesion, typically of inflammatory nature, involving the macula." "Yellow/white lesions of the macula (HP:0030500)" + "Cystoid macular degeneration" "A form of macular degeneration characterized by the presence of multiple cysts in the macula." "https://orcid.org/0000-0002-0736-9199" "Macular degeneration (HP:0000608)" "Cystic macular degeneration" + "Retinal hamartoma" "A hamartoma (a benign, focal malformation consisting of a disorganized mixture of cells and tissues) of the retina." "https://orcid.org/0000-0002-0736-9199" "Abnormal retinal morphology (HP:0000479), Hamartoma of the eye (HP:0010568)" + "Macular microaneurysm/hemorrhage" "Small, red dots in the superficial retinal layers (it is difficult to distinguish between small hemorrhages and microaneurysms)." "Retinal microaneurysm (HP:0032416), Abnormality morphology of the macular vasculature (HP:0030495)" + "Foveal atrophy" "Partial or complete loss of foveal tissue that was once present." "https://orcid.org/0000-0002-0736-9199" "Abnormal foveal morphology (HP:0000493)" "Loss of foveal tissue (atrophy) may be inferred by a medical history of loss of vision and the observation of a foveal lesion such as reduced foveal thickness on optical coherence tomography (OCT)." + "Retinal hemorrhage" "Hemorrhage occurring within the retina." "HPO_CONTRIBUTOR:gcarletti" "Hemorrhage of the eye (HP:0011885), Abnormal retinal morphology (HP:0000479), Fundus hemorrhage (HP:0031803)" "Retinal haemorrhages, Retinal haemorrhage, Retinal hemorrhages, Retinal bleeding" "The type of retinal hemorrhage and its clinical appearance depends on its location within the retina." + "Central thinning of the outer nuclear layer of the retina" "Reduced thickness of the outer nuclear layer in the middle region of the retina. The outer nuclear layer (ONL) of the retina contains the nuclei of the cone and rod photoreceptors. Loss of the cellular machinery found in these nuclei causes irreparable loss of the photoreceptors and the capacity for visual function. This feature can be appreciated by directional optical coherence tomography." "PMID:25829348" "Retinal thinning (HP:0030329)" "Central thinning of the ONL" + "Posterior retinal neovascularization" "A type of retinal neovascularization that affects the posterior pole of the retina." "https://orcid.org/0000-0002-0736-9199" "Retinal neovascularization (HP:0030666)" "Posterior retinal neovascularisation, Neovascularization of peripheral and posterior retina" + "Intraretinal exudate" "Retinal exudate within the retinal tissue itself." "https://orcid.org/0000-0002-0736-9199" "Retinal exudate (HP:0001147)" + "Abnormal optic nerve morphology" "Abnormality of the optic nerve." "https://orcid.org/0000-0002-0736-9199" "Abnormal fundus morphology (HP:0001098)" "optic nerve abnormalities, Abnormality of the optic nerve, Optic nerve issue" "The optic nerve, which is also known as cranial nerve II, transmits visual information from the retina to the brain. The term 'optic disc' is frequently used to describe the portion of the optic nerve clinically visible on fundoscopic examination." + "Disciform macular scar" "A subretinal scar with a disc-like shape in the region of the macula." "Macular scar (HP:0200056)" + "Peripheral retinal detachment" "Separation of the inner layers of the retina (neural retina) from the pigment epithelium occurring near the outer limit (periphery) of the retina." "Retinal detachment (HP:0000541)" + "Hypermyelinated retinal nerve fibers" "Abnormal myelination (HP:0012447), Abnormal retinal nerve fiber layer morphology (HP:0020119)" "Retinal striation, Hypermyelinated retinal nerve fibres" + "Achromatic retinal patches" "Areas of the retina lacking pigmentation. Punched out areas of chorioretinal hypopigmentation less than 1 disk diameter in size and tending to be located in the midperiphery of the retina." "PMID:11264130, https://orcid.org/0000-0002-0736-9199" "Hypopigmentation of the fundus (HP:0007894)" "Punched out areas of chorioretinal hypopigmentation" + "Megalopapilla" "A congenitally anomalous enlarged optic disc (surface area greater than 2.50 square millimeters). It is considered to be a normal variant without physiological defects." "PMID:31926369" "Abnormal optic disc morphology (HP:0012795)" + "Preretinal hemorrhage" "An accumulation of blood between the neurosensory retina and the retinal pigment epithelium (RPE) arising from the choroidal or retinal circulation." "https://orcid.org/0000-0003-0986-4123" "Fundus hemorrhage (HP:0031803)" "Preretinal heme, Preretinal haemorrhage" "Clinically speaking, distinguishing between preretinal and subhyaloid hemorrhages is difficult. Therefore, clinicians often use the terms interchangeably. A D-shaped or boat-shaped appearance may be observed, because the blood accumulates within loosely adherent tissue of the superficial retina and can spread and settle inferiorly with gravity. A sharp demarcation line is usually evident." + "Dot-and-blot retinal hemorrhage" "Accumulation of blood located in the retina's inner nuclear and outer plexiform layers, and having a dot-like or blot-like shape. THe shape results from intraretinal compression, restricting the hemorrhages within a specific location." "Intraretinal hemorrhage (HP:0031805)" "Round retinal heme, Dot-and-blot retinal haemorrhage" "Dot-ant-blot Intraretinal hemorrhages take longer to resolve than superficial hemorrhages because they're deeper than flame-shaped hemorrhages." + "Premacular hemorrhage" "Preretinal hemorrhage (HP:0025240)" "Premacular haemorrhage" + "Chorioretinal coloboma" "Absence of a region of the retina, retinal pigment epithelium, and choroid." "https://orcid.org/0000-0002-0736-9199" "Abnormal chorioretinal morphology (HP:0000532), Coloboma (HP:0000589)" "Choroidoretinal coloboma, Birth defect that causes a hole in the innermost layer at the back of the eye" + "Dark choroid" "A fluorescein angiographic finding of absence of the normal background fluorescence (a dark choroid)." "PMID:7248243, PMID:27739528" "Abnormal choroid morphology (HP:0000610)" "The cause of dark choroid is thought to relate to the deposition of an abnormal material (lipofuscin) in the retinal pigment epithelial cells." + "Hypoplasia of the fovea" "Underdevelopment of the fovea centralis." "https://orcid.org/0000-0002-0736-9199" "Aplasia/Hypoplasia of the fovea (HP:0008060)" "Foveal hypoplasia" "A dull foveal reflex is an unusual reflex of the foveal region on fundoscopy that may indicate hypoplasia of the fovea." + "Central retinal vein occlusion" "Central retinal vein occlusion is an occlusion of the main retinal vein posterior to the lamina cribrosa of the optic nerve and is typically caused by thrombosis." "PMID:30252241" "Retinal vein occlusion (HP:0012636)" + "Chorioretinal dysplasia" "Abnormal development of the choroid and retina." "https://orcid.org/0000-0002-0736-9199" "Abnormal chorioretinal morphology (HP:0000532)" + "Nummular pigmentation of the fundus" "Clumped pigmentary changes of nummular appearance (i.e., thought to resemble the shape of a coin or multiple coins stuck together) at the level of the retinal pigment epithelium." "PMID:21763485" "Pigmentary retinopathy (HP:0000580)" "Nummular pigmentation of the retina" + "Choroidal nevus" "A benign, flat or slightly elevated melanocytic lesions of the posterior uveawith clearly defined margins. Choroidal nevi tend they remain stable in size, and to display features such as overlying drusen as well as retinal pigment epithelial atrophy, hyperplasia or fibrous metaplasia." "Abnormal choroid morphology (HP:0000610)" + "Cone dystrophy" "Inherited progressive cone degeneration." "Cone/cone-rod dystrophy (HP:0000548)" "Progressive cone dystrophy, Progressive cone degeneration" + "Temporal optic disc pallor" "A pale yellow discoloration of the temporal (lateral) portion of the optic disc." "PMID:19668477, https://orcid.org/0000-0002-0736-9199" "Optic disc pallor (HP:0000543)" "Temporal pallor is seen in conditions that selectively affect the papillo-macular bundle. The word temporal refers to the temporal bone at the side of the head." + "Abnormal optic disc morphology" "A morphological abnormality of the optic disc, i.e., of the portion of the optic nerve clinically visible on fundoscopic examination." "https://orcid.org/0000-0002-0736-9199" "Abnormal optic nerve morphology (HP:0000587)" "The term 'optic disc' is frequently used to describe the portion of the optic nerve clinically visible on fundoscopic examination." + "Retinal arterial macroaneurysms" "Acquired focal dilatations of branches of the retinal artery, usually second-order retinal arterioles, that range in size from 100 to 200 micrometers in diameter. Macroaneurysms are generally located at the temporal retina and may be hemorrhagic or exudative." "Abnormal retinal artery morphology (HP:0000630)" "Retinal arterial macroaneurysms can be visualized on fundoscopy and by fluorescein angiography or spectral-domain optical coherence tomography." + "Peripheral retinal atrophy" "Retinal atrophy (HP:0001105)" "Wasting of the outer part of the retina" + "Falciform retinal fold" "An area of the retina that is buckled so that a sector-shaped sheet of retina lies in front of the normal retina. This feature is of congenital onset." "https://orcid.org/0000-0002-0736-9199" "Retinal fold (HP:0008052)" "Congenital retinal fold" + "Large hyperpigmented retinal spots" "Hyperpigmentation of the fundus (HP:0011512)" + "Tapetal-like fundal reflex" "Golden, scintillating, particulate reflection noted on fundus examination (typically in the macula and sparing the fovea). The term tapetal is used to describe this 'metallic' sheen appearance as it is thought to be similar to the 'tapetal' reflex seen in the eyes of certain animals." "Abnormal fundus morphology (HP:0001098)" "This appearance is typically seen in female carriers of X-linked RP associated mutations." + "Retinoschisis" "Splitting of the neuroretinal layers of the retina." "https://orcid.org/0000-0002-0736-9199" "Abnormal retinal morphology (HP:0000479)" + "Bone spicule pigmentation of the retina" "Pigment migration into the retina in a bone-spicule configuration (resembling the nucleated cells within the lacuna of bone)." "https://orcid.org/0000-0002-0736-9199" "Pigmentary retinopathy (HP:0000580)" "Retinal pigmented bone spicules, Bone corpuscle fundus pigmentation, Fundus with peripheral bony spicules, Retinal bone corpuscle pigmentation" + "Chorioretinal lacunae" "Punched out lesions in the pigmented layer of the retina." "https://orcid.org/0000-0002-0736-9199" "Abnormal chorioretinal morphology (HP:0000532)" "A chorioretinal lacuna can have the appearance of a pseudodisk in the retina." + "Abnormal distribution of retinal arterioles and venules" "Abnormal retinal vascular morphology (HP:0008046)" + "Abnormal retinal nerve fiber layer morphology" "A structural abnormality of the retinal nerve fiber layer" "Abnormal retinal morphology (HP:0000479)" "Abnormal retinal nerve fibre layer morphology" "The retinal nerve fiber layer consists of unmyelinated ganglion cell axons coursing on the vitreal surface of the retina to the optic disc. These axons become myelinated after entering the optic nerve." + "Retinal fold" "A wrinkle of retinal tissue projecting outward from the surface of the retina and visible as a line on fundoscopy." "https://orcid.org/0000-0002-0736-9199" "Abnormal retinal morphology (HP:0000479)" "Retinal folds" + "Retinopathy of prematurity stage 5b" "A closed funnel detachment of the retina with generally traction in all four quadrants." "ISBN:978-3-319-52190-9" "Retinopathy of prematurity stage 5 (HP:0500056)" "ROP stage 5b" + "Optic disc hypoplasia" "Underdevelopment of the optic disc, that is of the optic nerve head, where ganglion cell axons exit the eye to form the optic nerve." "https://orcid.org/0000-0002-0736-9199" "Aplasia/Hypoplasia of the optic nerve (HP:0008058)" "Hypoplastic optic discs" + "Hypopigmentation of the fundus" "Reduced pigmentation of the fundus, typically generalized. Fundoscopy may reveal a low level pigment in both RPE and choroid with clear visibility of choroidal vessels (pale/albinoid) or low pigment level in the RPE with deep pigment in choroid so that visible choroidal vessels are separated by deeply pigmented zones (tesselated/tigroid)." "https://orcid.org/0000-0003-0986-4123" "Abnormality of fundus pigmentation (HP:0031605)" "Decreased fundus pigmentation, Fundus hypopigmentation" + "Retinal arterial tortuosity" "The presence of an increased number of twists and turns of the retinal artery." "https://orcid.org/0000-0002-0736-9199" "Arterial tortuosity (HP:0005116), Retinal vascular tortuosity (HP:0012841), Abnormal retinal artery morphology (HP:0000630)" "Retinal artery tortuousity" + "Fundus atrophy" "Abnormal fundus morphology (HP:0001098)" + "Chorioretinal dystrophy" "Retinal dystrophy (HP:0000556), Abnormal chorioretinal morphology (HP:0000532)" + "Retinal vascular proliferation" "Abnormal retinal vascular morphology (HP:0008046)" + "Bull's eye maculopathy" "Progressive maculopathy characterized by concentric regions of hyper- and hypo-pigmentation." "https://orcid.org/0000-0001-8727-6592" "Abnormality of macular pigmentation (HP:0008002)" "Chloroquine retinopathy" + "Morning glory anomaly" "An abnormality of the optic nerve in which the optic nerve is large and funneled and displays a conical excavation of the optic disc. The optic disc appears dysplastic." "Abnormal optic nerve morphology (HP:0000587)" "Morning glory disk anomaly, Morning glory optic disc, Morning glory disc anomaly" "The name of this anomaly derives from a perceived similarity of the anomaly to the morning glory flower." + "Hypoplasia of the retina" "Aplasia/Hypoplasia of the retina (HP:0008061)" "Underdeveloped retina, Retinal hypoplasia" + "Retinal arterial occlusion" "Blockage of the retinal artery, generally associated with interruption of blood flow and oxygen delivery to the retina." "Abnormal retinal artery morphology (HP:0000630)" "Retinal artery occlusion" "Retinal artery occlusion can manifest as painless loss of monocular vision." + "Optic nerve misrouting" "Abnormal decussation of the visual pathways, typically identified using visual evoked potentials (VEP) (asymmetrical distribution of the VEP over the posterior scalp)." "Abnormal optic nerve morphology (HP:0000587)" "Visual pathway misrouting, Optic pathway misrouting" + "Foveal hyperpigmentation" "Increased amount of pigmentation in the fovea centralis." "https://orcid.org/0000-0002-0736-9199" "Abnormality of foveal pigmentation (HP:0030493)" + "Macular cotton wool spot" "Fluffy white patch on the macula, representing localized areas of dense white swelling of the retinal nerve fiber layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels." "PMID:6169833" "Retinal cotton wool spot (HP:0031606), Yellow/white lesions of the macula (HP:0030500)" "Cotton-wool spots (CWSs) are common retinal manifestations of many diseases including diabetes mellitus, systemic hypertension, and acquired immunodeficiency syndrome." + "Central retinal vessel vascular tortuosity" "The presence of an increased number of twists and turns of retinal blood vessels (arteries, arterioles, veins, venules)." "https://orcid.org/0000-0002-0736-9199" "Retinal arterial tortuosity (HP:0000631)" "Tortuosity of main retinal vessels" + "Abnormality of foveal pigmentation" "An anomaly of the pigmentation in the fovea centralis." "Abnormality of macular pigmentation (HP:0008002), Abnormal foveal morphology (HP:0000493)" + "Abnormal fundus morphology" "Any structural abnormality of the fundus of the eye." "Abnormal posterior eye segment morphology (HP:0004329)" "Abnormality of the fundus" + "Aplasia of the fovea" "Congenital absence of the fovea." "https://orcid.org/0000-0002-0736-9199" "Aplasia/Hypoplasia of the fovea (HP:0008060)" "Absent fovea" "Aplasia of the fovea can occur in aniridia and albinism." + "Retinal arteriolar tortuosity" "The presence of an increased number of twists and turns of the retinal arterioles." "https://orcid.org/0000-0002-0736-9199" "Retinal vascular tortuosity (HP:0012841), Abnormal retinal artery morphology (HP:0000630)" "Tortuous retinal arterioles" + "Choroidal hemangioma" "The presence of multiple hemangiomas in the choroid. These are generally reddish or orange or can have increased pigmentation maiking them difficult to distinguish from choroidal melanomas." "https://orcid.org/0000-0002-0736-9199" "Hemangioma (HP:0001028), Abnormal morphology of the choroidal vasculature (HP:0025568)" "Choroidal hemangiomas can cause hyperopia or other visual symptoms such as blurred or distorted vision. Some choroidal hemangiomas are asymptomatic." + "Retinopathy of prematurity zone II" "Retinopathy which extends centrifugally from the edge of zone I to the nasal ora serrata." "PMID:16009843, ISBN:978-3-319-52190-9" "Retinopathy of prematurity (HP:0500049)" "ROP zone II" + "Abnormality of chorioretinal pigmentation" "Abnormal chorioretinal morphology (HP:0000532)" + "Focal sub-RPE deposits" "Deposits accumulating between the retinal pigment epithelium and Bruch's membrane and that are distributed in a single focus." "Sub-RPE deposits (HP:0031531)" + "Retinopathy" "Any noninflammatory disease of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality." "https://orcid.org/0000-0002-0736-9199" "Abnormal retinal morphology (HP:0000479)" "Noninflammatory retina disease" + "Branch retinal artery occlusion" "Blockage of a branch of the retinal artery. This can cause loss of a section of visual field." "PMID:19376586, https://orcid.org/0000-0003-0986-4123" "Retinal arterial occlusion (HP:0025326)" + "Aplasia/Hypoplasia of the macula" "Aplasia/Hypoplasia of the retina (HP:0008061), Abnormal macular morphology (HP:0001103)" "Absent/underdeveloped macula" + "Yellow/white lesions of the macula" "Yellow/white lesions of the retina (HP:0030506), Abnormal macular morphology (HP:0001103)" + "Hemiretinal vein occlusion" "A variant of central retinal vein occlusions that involves the superior or inferior half of the retina." "PMID:22069354, https://orcid.org/0000-0003-0986-4123" "Retinal vein occlusion (HP:0012636)" + "Solitary congenital hypertrophy of retinal pigment epithelium" "Sharply demarcated hyperpigmentation which is congenital found in around 3-5% of the population and of no functional significance." "https://orcid.org/0000-0001-8727-6592" "Congenital hypertrophy of retinal pigment epithelium (HP:0007649)" "Single isolated CHRPE, Single isolated congenital hypertrophy of retinal pigment epithelium" + "Increased vertical cup-to-disc ratio - 0.7" "Ratio of the height of the cup of the optic nerve head to the height of the disk is 0.7 (The normal cup-to-disc ratio is 0.3)." "https://orcid.org/0000-0003-0986-4123" "Increased vertical cup-to-disc ratio (HP:0031973)" + "Macular agenesis" "A congenital defect characterized by lack of development of the macula." "Aplasia/Hypoplasia of the macula (HP:0008059)" + "Retinal dysplasia" "The presence of developmental dysplasia of the retina." "https://orcid.org/0000-0002-0736-9199" "Abnormal retinal morphology (HP:0000479)" "Retinal dysgenesis" "This feature is a congenital developmental anomaly of the retina characterized by abnormal growth and differentiation. The retina contains numerous tubular structures and rosettes. Retinal dysplasia (synonym: retinal dysgenesis) is often accompanied by retinal detachment and micropthalmos, but the latter features should be coded separately." + "Peripapillary atrophy" "Thinning in the layers of the retina and retinal pigment epithelium around the optic nerve." "PMID:20920826" "Diffuse optic disc pallor (HP:0012512)" + "Retinal exudate" "Fluid which has escaped from retinal blood vessels with a high concentration of lipid, protein, and cellular debris with a typically bright, reflective, white or cream colored appearance on the surface of the retina." "https://orcid.org/0000-0002-0736-9199" "Yellow/white lesions of the retina (HP:0030506)" "Retinal exudates" "Retinal exudates indicate increased vessel permeability and an associated risk of retinal edema." + "Increased vertical cup-to-disc ratio" "An abnormal increase in the ratio of the height of the cup of the optic nerve head to the height of the disk." "https://orcid.org/0000-0003-0986-4123" "Increased cup-to-disc ratio (HP:0012796)" "Primary open angle glaucoma is causing a progressive optic neuropathy and its development is associated with loss of tissue in the neuroretinal rim of the optic disc and that will lead to increase in the size of the optic cup. Clinical estimation of the size of the cup using either the slit lamb or a simple imaging modalities such as fundus images is a significant clinical parameter and remains the simplest and most frequently performed assessment of the optic disc in the diagnosis and follows up the progression of the glaucoma suspect. The estimation of the size of the cup is usually made by comparison with the size of the disk and given as the ratio of the vertical and horizontal diameter of the cup to the vertical and horizontal diameter." + "Optic nerve dysplasia" "The presence of developmental dysplasia of the optic nerve." "https://orcid.org/0000-0002-0736-9199" "Abnormal optic nerve morphology (HP:0000587)" + "Pattern dystrophy of the retina" "A spectrum of fundoscopic appearances characterized by the development of a variety of patterns of deposits predominantly in the macular area. The deposits are typically bilateral, relatively symmetrical, yellow/white and associated with changes at the level of the retinal pigment epithelium. With time, retinal atrophy may occur. A number of pattern dystrophy subtypes have been described including butterfly-shaped dystrophy, reticular dystrophy (net-like pattern) and fundus pulverulentus (granular, mottled pigmentation)." "https://orcid.org/0000-0003-0986-4123" "Retinal dystrophy (HP:0000556)" + "Intraretinal fluid" "Edema/fluid accumulating within the retinal layers." "Abnormal retinal morphology (HP:0000479)" "Intra-retinal fluid" + "Retinal flecks" "Presence of multiple yellowish-white lesions of various size and configuration on the retina not related to vascular lesions." "PMID:7952338" "Yellow/white lesions of the retina (HP:0030506)" + "Macular degeneration" "A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea." "https://orcid.org/0000-0003-0986-4123, https://orcid.org/0000-0002-0736-9199" "Retinal degeneration (HP:0000546), Abnormal macular morphology (HP:0001103)" "Pigmented macular degeneration" + "Optic nerve gray crescent" "Having a characteristic appearance of a slate gray area of pigmentation within the disk margins that commonly appears along the inferotemporal or temporal neuroretinal rim areas." "PMID:24862768" "Temporal optic disc pallor (HP:0012511)" "Temporal grey pigmentary crescent, Temporal gray pigmentary crescent, Optic nerve grey crescent" "This type of disk rim pigmentation can create the impression of neuroretinal rim thinning, and thus lead to the misdiagnosis of glaucoma or \"glaucoma suspect\" with attendant implications for overtreatment or unnecessary close monitoring of such patients." + "Retinal cotton wool spot" "Fluffy white patch on the retina, representing localized areas of dense white swelling of the retinal nerve fiber layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels." "PMID:6169833" "Yellow/white lesions of the retina (HP:0030506)" + "Retinal neoplasm" "A tumor (abnormal growth of tissue) of the retina." "HPO_CONTRIBUTOR:CINEAS_asollie" "Neoplasm of the eye (HP:0100012), Abnormal retinal morphology (HP:0000479)" + "Depigmented fundus" "Hypopigmentation of the fundus (HP:0007894)" + "Choroidal vascular hyperpermeability" "Increased tendency of choiroidal blood vessels to allow fluids to leak characterized by multifocal choroidal hyperfluorescence on indocyanine green angiography (ICGA)." "PMID:25709392" "Abnormal morphology of the choroidal vasculature (HP:0025568)" "Choroidal hyperpermeability" + "Vitelliform-like macular lesions" "Vitelliform maculopathy is a sharply demarcated lesion caused by the accumulation of material, often lipofuscin in the subretinal space underlying the macula." "PMID:18289629, https://orcid.org/0000-0001-8727-6592" "Yellow/white lesions of the macula (HP:0030500)" "Vitelliform macular lesions" + "Subretinal pigment epithelium hemorrhage" "An accumulation of blood located between the retinal pigment epithelium (RPE) and Bruch's membrane." "Retinal hemorrhage (HP:0000573)" "Subretinal pigment epithelium haemorrhage" + "Retinopathy of prematurity stage 5a" "An open funnel detachment of the retina with generally traction in all four quadrants." "ISBN:978-3-319-52190-9" "Retinopathy of prematurity stage 5 (HP:0500056)" "ROP stage 5a" + "Sub-RPE deposits" "Deposits accumulating between the retinal pigment epithelium and Bruch's membrane." "Abnormal retinal morphology (HP:0000479)" "This feature is related to Subretinal hyporeflective spaces on macular OCT." + "Polypoidal choroidal vasculopathy" "The presence of aneurysmal polypoidal lesions in the choroidal vasculature. The aneurysmal dilatations, also known as polyps, may be found at subfoveal, juxtafoveal, extrafoveal, peripapillary or even peripheral regions. These polypoidal dilatations may be visible as reddish-orange subretinal nodules during ophthalmoscopic examination. The polypoidal lesions are best detected on indocyanine green angiography (ICGA) and might be associated with a branching vascular network (BVN) of neovascularization." "PMID:24653824" "Abnormal morphology of the choroidal vasculature (HP:0025568)" "The presence of choroidal polyps and BVN can lead to recurrent episodes of exudative retinal detachment, serous or hemorrhagic pigment epithelial detachment (PED), subretinal hemorrhage, and subretinal exudation." + "Central serous chorioretinopathy" "An anomaly of the retina with serous detachment of the neurosensory retina secondary to one or more focal lesions of the retinal pigment epithelium (RPE), and associated with blurred vision, usually in one eye only and perceived typically by the patient as a dark spot in the center of the visual field with associated micropsia and metamorphopsia. Normal vision often recurs spontaneously within a few months." "PMID:17662099" "Abnormal chorioretinal morphology (HP:0000532)" "The condition can be precipitated by psychosocial stress and hypercortisolism. Ophthalmoscopic signs of CSC range from mono- or paucifocal RPE lesions with prominent elevation of the neurosensory retina by clear fluid - typical of cases of recent onset - to shallow detachments overlying large patches of irregularly depigmented RPE. The spectrum of lesions includes RPE detachments. Granular or fibrinous material may accumulate in the subretinal cavity. Serous detachment often resolves spontaneously." + "Optic nerve aplasia" "Congenital absence of the optic nerve." "https://orcid.org/0000-0002-0736-9199" "Aplasia/Hypoplasia of the optic nerve (HP:0008058)" "Aplastic optic nerve, Absent optic nerve" + "Macular hypopigmentation" "Decreased amount of pigmentation in the macula lutea." "HPO_CONTRIBUTOR:DDD_ncarter" "Abnormality of macular pigmentation (HP:0008002)" + "Retinopathy of prematurity plus" "Venous dilatation and arteriolar tortuosity of the posterior retinal vessels and may later increase in severity to include iris vascular engorgement, poor pupillary dilatation (rigid pupil), and vitreous haze. This definition has been further refined in the later clinical trials in which the diagnosis of plus disease could be made if sufficient vascular dilatation and tortuosity are present in at least 2 quadrants of the eye." "PMID:16009843" "Retinopathy of prematurity (HP:0500049)" "ROP plus" + "Macular dots" "Yellow, white or grayish lesions in the macula that are well-defined/distinct, individual and mostly uniform in size." "https://orcid.org/0000-0003-0986-4123" "Yellow/white lesions of the macula (HP:0030500)" + "Retinal nonattachment" "Failure of attachment of the retina during development." "PMID:21441919, https://orcid.org/0000-0002-0736-9199" "Retinal detachment (HP:0000541)" "Congenital retinal non-attachment" + "Focal subretinal deposits" "Deposits accumulating between the outer retina and the retinal pigment epithelium and that have a focal distribution." "Subretinal deposits (HP:0031528)" + "Optic pit" "A developmental anomaloy characterized by congenital excavation of the optic nerve head." "PMID:27847606" "Abnormal optic nerve morphology (HP:0000587)" "Optic nerve pit, Optic disc pit" + "Optic nerve hypoplasia" "Underdevelopment of the optic nerve." "https://orcid.org/0000-0002-0736-9199" "Aplasia/Hypoplasia involving the central nervous system (HP:0002977), Aplasia/Hypoplasia of the optic nerve (HP:0008058)" "Underdeveloped optic nerves, Hypoplastic optic nerves" + "Foveal hemorrhage" "Bleeding occurring within the fovea." "https://orcid.org/0000-0003-0986-4123" "Macular hemorrhage (HP:0025574)" "Foveal haemorrhage" + "Optic nerve arteriovenous malformation" "An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the optic nerve." "PMID:23125071" "Abnormal optic nerve morphology (HP:0000587)" + "Retinal atrophy" "Well-demarcated area(s) of partial or complete depigmentation in the fundus, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss." "https://orcid.org/0000-0003-0986-4123" "Retinal degeneration (HP:0000546)" + "Increased retinal vascularity" "Abnormal retinal vascular morphology (HP:0008046)" + "Subhyaloid hemorrhage" "A localized detachment of the vitreous from the retina due to the accumulation of blood. When localized in the macular area, it results in sudden profound loss of vision. Subhyaloid premacular hemorrhage is typically characterized by a circumscribed, round or dumb-bell shaped, bright red mound of blood beneath the internal limiting membrane (ILM) or between the ILM and hyaloid face, in or near to the central macular area." "PMID:27090882" "Preretinal hemorrhage (HP:0025240)" "Subhyaloid heme, Subhyaloid haemorrhage" "Clinically speaking, distinguishing between preretinal and subhyaloid hemorrhages is difficult. Therefore, clinicians use the terms inter-changeably. A D-shaped or boat-shaped appearance may be observed, because the blood accumulates within loosely adherent tissue of the superficial retina and can spread and settle inferiorly with gravity. A sharp demarcation line is usually evident." + "Ocular albinism" "An abnormal reduction in the amount of pigmentation (reduced or absent) of the iris and retina." "https://orcid.org/0000-0002-0736-9199" "Abnormal fundus morphology (HP:0001098), Iris hypopigmentation (HP:0007730)" "Albinism, Ocular, Absent pigmentation in the eye" "Ocular pigmentation is essential for normal vision, and persons with ocular albinism tend to have severely reduced visual acuity often associated with nystagmus, strabismus, and photophobia." + "Optic nerve tram-track sign" "A tram-track sign is composed of two enhancing areas of tumor separated from each other by the negative defect of the optic nerve. It is seen on contrast-enhanced CT scan and MRI images, in optic nerve sheath meningioma. The sign helps distinguish between optic nerve sheath meningioma and optic glioma. Optic glioma arises from glial cells within the optic nerve and there is no clear separation between the nerve and the tumor; hence the tram-track sign is not seen in optic gliomas. Calcification may be seen in optic nerve sheath meningiomas in 20-50% of cases and hence the tram-track sign may be seen on nonenhanced CT scan images as a linear calcification around the nerve, but this is less common." "PMID:19881070" "Abnormal optic nerve morphology (HP:0000587)" + "Retinitis pigmentosa inversa" "Retinitis pigmentosa inversa is form of retinal degeneration characterized by areas of retinal/chorioretinal degeneration with pigment migration in the macular area (in contrast to retinitis pigmentosa which, at early disease stages, predominantly affects the retinal periphery)." "PMID:9734800, https://orcid.org/0000-0003-0986-4123" "Retinal degeneration (HP:0000546)" "Central retinitis pigmentosa" + "Retinal dystrophy" "Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event." "https://orcid.org/0000-0003-0986-4123" "Abnormal retinal morphology (HP:0000479)" "Breakdown of light-sensitive cells in back of eye" + "Chorioretinal scar" "Fibrous connective tissue resulting from incomplete healing of a wound (i.e., a scar) located in the choroid and retina or the eye." "Chorioretinal degeneration (HP:0200065), Scarring (HP:0100699)" + "Occult macular dystrophy" "Occult macular dystrophy is a, typically hereditary, abnormality of the macula associated with progressive foveal cone dysfunction and no apparent fundoscopic, full-field electroretinogram (ERG), or fluorescein angiogram abnormalities." "https://orcid.org/0000-0003-0986-4123" "Macular dystrophy (HP:0007754)" + "Abnormality of retinal pigmentation" "Abnormal retinal morphology (HP:0000479)" "Abnormality of retinal pigment epithelium, Retinal pigmentary anomaly, Abnormal retinal pigmentation, Abnormality of RPE" + "Optic atrophy" "Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy." "https://orcid.org/0000-0002-0736-9199" "Abnormal optic disc morphology (HP:0012795)" "Optic-nerve degeneration, Optic nerve atrophy" "The diagnosis of optic atrophy is made when the optic disc loses its normal orange-pink color. Optic atrophy is an end stage that arises from myriad causes of optic nerve damage anywhere along the path from the retina to the lateral geniculate. Some of the most common etiologies are advanced glaucoma, optic neuritis, arteritic or non-arteritic ischemic optic neuropathy or a compressive lesion." + "Opto-chiasmatic atrophy" "Wasting (atrophy) of the optic chiasm." "PMID:34161705" "Abnormal optic chiasm morphology (HP:0025163)" + "Aplasia/Hypoplasia of the retina" "Abnormal retinal morphology (HP:0000479), Aplasia/Hypoplasia affecting the fundus (HP:0008057)" "Absent/small retina, Absent/underdeveloped retina" + "Optic nerve compression" "Cranial nerve compression (HP:0001293), Abnormal optic nerve morphology (HP:0000587)" + "Ectopic fovea" "An abnormal anatomic position of the fovea, the small, central pit composed of closely packed cones that is located in the macula of the retina." "Abnormal foveal morphology (HP:0000493)" + "Optic neuropathy" "Abnormal optic nerve morphology (HP:0000587)" "Damaged optic nerve" + "Attenuation of retinal blood vessels" "Abnormal retinal vascular morphology (HP:0008046)" "Narrowing of blood vessels in back of eye" + "Peripapillary exudate" "A retinal exudate in the area surrounding the optic nerve head." "Retinal exudate (HP:0001147)" "Peripapillary exudation" + "Drusen" "Drusen (singular, 'druse') are tiny yellow or white accumulations of extracellular material (lipofuscin) that build up in Bruch's membrane of the eye." "https://orcid.org/0000-0001-8727-6592" "Yellow/white lesions of the retina (HP:0030506)" + "Peripheral tractional retinal detachment" "Tractional retinal detachment at the periphery of the retina." "Tractional retinal detachment (HP:0007917)" "Tractional retinal detachment at the periphery of the retina, Peripheral traction retinal detachment" + "Papilledema" "Papilledema refers to edema (swelling) of the optic disc secondary to any factor which increases cerebral spinal fluid pressure." "https://orcid.org/0000-0002-0736-9199" "Abnormal optic disc morphology (HP:0012795)" "The borders of the optic disc are normally clear and well defined upon fundoscopic examination. Papilledema is optic disc swelling that can lead to the blurring of optic margins and elevation of optic disc." + "Subretinal exudate" "A type of retinal exudate located in the subretinal space between the sensory retina and the retinal pigment epithelium." "https://orcid.org/0000-0002-0736-9199" "Retinal exudate (HP:0001147)" + "Retinal telangiectasia" "Dilatation of small blood vessels of the retina." "https://orcid.org/0000-0002-0736-9199" "Abnormal retinal vascular morphology (HP:0008046), Telangiectasia (HP:0001009)" + "Retinal astrocytic hamartoma" "A glial tumor of the retinal nerve fiber layer arising from a retinal astrocyte." "PMID:23436975, PMID:20435268" "Retinal hamartoma (HP:0009594)" "Classically retinal astrocytic hamartomas appear as a cream-white, well-circumscribed, elevated lesions that may present as multiple or solitary sites. A lesion is commonly seen with a multilobulated, \"mulberry\" appearance, but can also appear flat and semitranslucent. It is most frequently associated with tuberous sclerosis but may also be found rarely in patients with neurofibromatosis. Although the finding may point toward a systemic association, it can also be found incidentally on retinal examination as an isolated presentation." + "Hyperpigmentation of the fundus" "Increased pigmentation of the fundus" "HPO_CONTRIBUTOR:DDD_ncarter, https://orcid.org/0000-0003-0986-4123" "Abnormality of fundus pigmentation (HP:0031605)" "Hyperpigmented fundus, Hyperpigmented fundi" + "Absent retinal pigment epithelium" "Hypopigmentation of the fundus (HP:0007894)" + "Retinal microaneurysm" "A localized dilation of microvasculature formed due to disruption of the internal elastic lamina of a retinal capillary blood vessel. The lesions present as small circular, red dots having distinct margins and are no larger than a blood vessel width at the disk margin. This expansion disturbs the normal flow pattern, changing shear force and pressure along the vessel. Shear force plays a key role in promoting the differentiation and proliferation of endothelial cells." "PMID:24425852, PMID:23371018, https://orcid.org/0000-0002-6601-2165" "Abnormal retinal vascular morphology (HP:0008046)" "A microaneurysm may be a focal bulge or have a saccular, fusiform, or mixed appearance. Multiple microaneurysm may be observed in the fundus." + "Peripheral retinal avascularization" "Abnormal retinal vascular morphology (HP:0008046)" + "Retinal degeneration" "A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells." "https://orcid.org/0000-0003-0986-4123, https://orcid.org/0000-0002-0736-9199" "Abnormal retinal morphology (HP:0000479)" "Retina degeneration" + "Cilioretinal artery occlusion" "Blockage of the cilioretinal artery. The central retinal artery supplies the inner retina and the surface of the optic nerve. In some individuals, the cilioretinal artery, a branch of the ciliary circulation, may supply a portion of the retina including the macula. In cilioretinal artery occlusion, vision loss results from cell death in the inner retinal layers (mainly ganglion cells) despite relative sparing of the outer layers." "PMID:28058169, https://orcid.org/0000-0003-0986-4123" "Retinal arterial occlusion (HP:0025326)" + "Macular scar" "Scar tissue in the macula." "https://orcid.org/0000-0002-0736-9199" "Scarring (HP:0100699), Macular atrophy (HP:0007401)" "Macular scarring" + "Chorioretinal hypopigmentation" "Abnormality of chorioretinal pigmentation (HP:0007661)" + "Retinopathy of prematurity stage 3" "The neovascularization accumulates at the edge of the vascularized retina and extends into the vitreous (also called extra retinal fibrosis proliferation). In cases of Zone 2 and Zone 3, this may be sausage shaped. In more posterior Zone 1 disease, the stage 3 can appear as a direct extension of the normal retinal vessels but extending tangentially over the avascular retina." "ISBN:978-3-319-52190-9" "Retinopathy of prematurity (HP:0500049)" "ROP stage 3" + "Macular schisis" "Splitting of the retina in the macular region." "https://orcid.org/0000-0001-8727-6592" "Macular thickening (HP:0030498)" "This abnormality can be seen in X-linked retinoschisis." + "Abnormal retinal morphology" "A structural abnormality of the retina." "https://orcid.org/0000-0002-0736-9199" "Abnormal fundus morphology (HP:0001098)" "Abnormal retina, Anomaly of the retina, Retina issue, Abnormality of the retina" + "Reticular pigmentary degeneration" "A type of retinal reticular pigmentation that forms a polygonal, netlike arrangement of hyperpigmented lines forming geometric patterns in the fundus." "PMID:28114409, HPO_CONTRIBUTOR:fprobst" "Hyperpigmentation of the fundus (HP:0011512), Peripheral retinal degeneration (HP:0007769)" "Honeycomb retinal degeneration, Fishnet retinal pigmentation" + "Retinal crystals" "Crystalline deposits in the retina." "PMID:12498506" "Yellow/white lesions of the retina (HP:0030506)" "Crystalline deposits in the retina may be associated with a wide variety of systemic disorders such as oxalosis, cystinosis, hyperornithinaemia and Sjogren-Larsson syndrome. Refractile crystalline deposits may also be a manifestation of drug toxicity like the antineoplastic agent tamoxifen, the anesthetic methoxyflurane and the oral tanning agent canthaxanthine. Crystals may also occur in drug abusers who inject multiple crushed tablets of methadone or meperidine intravenously (talc retinopathy)." + "Retinal hole" "A small break in the retina." "https://orcid.org/0000-0002-0736-9199" "Retinal perforation (HP:0011958)" "Retinal holes" "A retinal hole can be asymptomatic or can lead to the sudden appearance of many floaters or flashes, blurry, or wavy vision, or of a a dark shadow or curtain in the peripheral visual field." + "Complete congenital stationary night blindness" "Congenital stationary night blindness with normal fundus (HP:0030638)" + "Retinal cavernous hemangioma" "A benign tumor of the retina that appears as a grouping of blood-filled saccules within the inner retinal layers or on the surface of the optic disc. Retinal cavernous angioma are described as having a 'cluster of grapes' appearance." "PMID:20844673, https://orcid.org/0000-0002-0736-9199" "Retinal vascular malformation (HP:0007797)" "Retinal cavernous haemangioma, Retinal cavernous angioma" "The lesions are variable in size and location, and frequently follow the course of a major retinal vein. Epiretinal membranes are a common feature. In contrast to retinal capillary hemangiomas, cavernous hemangiomas lack prominent feeder vessels, intraretinal exudate, and surrounding subretinal fluid. Because the fundoscopic features are characteristic, diagnosis can generally be made based upon clinical appearance." + "Retinopathy of prematurity pre-plus" "As vascular abnormalities of the posterior pole that are insufficient for the diagnosis of plus disease but that demonstrate more arterial tortuosity and more venous dilatation than normal." "PMID:16009843" "Retinopathy of prematurity (HP:0500049)" "ROP pre-plus" "Over time, the vessel abnormalities of pre-plus may progress to frank plus disease as the vessels dilate and become more tortuous." + "Retinal vein occlusion" "Blockage of the retinal vein." "https://orcid.org/0000-0002-0736-9199" "Abnormal retinal vascular morphology (HP:0008046)" "Retinal vein occlusion can lead to edema and ischemia of the retina." + "Cone/cone-rod dystrophy" "Retinal dystrophy (HP:0000556)" "Cone-rod retinal dystrophy, Cone rod dystrophy" + "Septo-optic dysplasia" "Underdevelopment of the optic nerve and absence of the septum pellucidum." "https://orcid.org/0009-0006-4530-3154" "Optic nerve hypoplasia (HP:0000609), Absent septum pellucidum (HP:0001331)" "De Morsier syndrome" + "Macular drusen" "Drusen (singular, 'druse') are tiny yellow or white accumulations of extracellular material (lipofuscin) that build up in Bruch's membrane of the eye. This class refers to the presence of Drusen in the macula." "https://orcid.org/0000-0002-0736-9199" "Yellow/white lesions of the macula (HP:0030500), Drusen (HP:0011510)" + "Juxtafoveal choroidal neovascularization" "A type of choroidal neovascularization in which the nearest edge of the area of neovascularization is located 1 to 199 micrometers from the center of the fovea." "Choroidal neovascularization (HP:0011506)" + "Retinoblastoma" "A tumor of the eye originating from cells of the retina." "https://orcid.org/0000-0002-0736-9199" "Retinal neoplasm (HP:0012777), Embryonal neoplasm (HP:0002898), Neuroepithelial neoplasm (HP:0030063)" + "Abnormal retinal vascular morphology" "A structural abnormality of retinal vasculature." "https://orcid.org/0000-0002-0736-9199" "Abnormal retinal morphology (HP:0000479), Abnormality of the vasculature of the eye (HP:0008047)" "Abnormality of the retinal vasculature, Abnormality of retina blood vessels" + "Cherry red spot of the macula" "Pallor of the perifoveal macula of the retina with appearance of a small circular reddish choroid shape as seen through the fovea centralis due to relative transparency of the macula." "https://orcid.org/0000-0002-0736-9199" "Abnormal retinal artery morphology (HP:0000630)" "Macular cherry red spot" + "Peripheral retinal neovascularization" "A type of retinal neovascularization that affects the periphery of the retina." "PMID:22076700, https://orcid.org/0000-0002-0736-9199" "Retinal neovascularization (HP:0030666)" + "Inferior chorioretinal coloboma" "Absence of a region of the retina, retinal pigment epithelium, and choroid at the lower part of the fundus." "Chorioretinal coloboma (HP:0000567)" + "Macular flecks" "Pale often indistinct lesions of the macula." "https://orcid.org/0000-0001-8727-6592" "Yellow/white lesions of the macula (HP:0030500)" + "Granular macular appearance" "Mottled (spotted or blotched with different shades) pigmentary abnormality of the macula lutea." "https://orcid.org/0000-0002-0736-9199" "Abnormality of macular pigmentation (HP:0008002), Retinal pigment epithelial mottling (HP:0007814)" "Macular retinal pigment epithelial mottling" + "Retinopathy of prematurity zone I" "Retinopathy which extends from the center of the optic disc to twice the distance from the center of the optic disc to the center of the macula." "PMID:16009843, ISBN:978-3-319-52190-9" "Retinopathy of prematurity (HP:0500049)" "ROP zone 1" + "Retinitis" "Inflammation of the retina of the eye." "https://orcid.org/0000-0003-0986-4123" "Abnormal retinal morphology (HP:0000479)" "Note that the term Chorioretinitis suggests that the origin of the process is predominantly in the choroid while Retinitis suggests that the process is mainly in the retina." + "Yellow/white lesions of the retina" "Abnormal retinal morphology (HP:0000479)" + "Sub-inner limiting membrane hemorrhage" "A type of intraretinal hemorrhage that is located in the superficial retina between the inner limiting membrane and the retinal nerve fiber layer." "PMID:17229799" "Retinal hemorrhage (HP:0000573)" "Sub-inner limiting membrane haemorrhage, Sub-ILM hemorrhage, Sub-ILM haemorrhage" "Preretinal hemorrhages usually occur at the interface between the posterior hyaloid and inner limiting membrane (ILM). Less frequently, they are located in the superficial retina between the ILM and the retinal nerve fiber layer. These sharply demarcated, dome-shaped hemorrhages show a predilection for the macular region and consequently lead to severe visual impairment." + "Pigmentary retinopathy" "An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss." "https://orcid.org/0000-0003-0986-4123" "Abnormality of retinal pigmentation (HP:0007703)" "Retinal pigmentary clumping, Pigmentary retinal deposits, Retinal pigment clumping, Retinal pigmentary degeneration" + "Retinopathy of prematurity stage 4b" "A detachment that involves the peripheral retina that involves the macula itself. The detachment usually starts in the temporal periphery although can also involve the nasal retina as well." "ISBN:978-3-319-52190-9" "Retinopathy of prematurity stage 4 (HP:0500053)" "ROP 4b" + "Aplasia/Hypoplasia affecting the fundus" "Abnormal fundus morphology (HP:0001098), Aplasia/Hypoplasia affecting the eye (HP:0008056)" "Absent/small fundus" + "Retinal coloboma" "A notch or cleft of the retina." "https://orcid.org/0000-0002-0736-9199" "Abnormal retinal morphology (HP:0000479), Coloboma (HP:0000589)" "Hole in the back of the eye" + "Retinal vasculitis" "Inflammation of retinal blood vessels as manifested by perivascular sheathing or cuffing, vascular leakage and/or occlusion." "Abnormal retinal vascular morphology (HP:0008046)" "This term refers to the appearance of the retinal vessels on fundoscopy or other investigations. Retinal vasculitis may be associated with other manifestations such as visual impairment." + "Grouped congenital hypertrophy of retinal pigment epithelium" "Congenital hypertrophy of retinal pigment epithelium (HP:0007649)" "Bear track congenital hypertrophy of retinal pigment epithelium" + "Dilatation of large choroidal vessels" "Enlargement of the large blood vessels in the choroid." "PMID:26026923" "Abnormal morphology of the choroidal vasculature (HP:0025568)" "Dilated choroidal vessels" "Choroidal thickening can be a feature of central serous chorioretinopathy and results from focal or diffuse dilatation of large choroidal vessels, which are commonly localized within areas of increased choroidal vascular permeability on indocyanine green angiography." + "Pericentral retinitis pigmentosa" "A subtype of retinitis pigmentosa in which, instead of the pathology starting in the mid-periphery like typical retinitis pigmentosa, the disease starts in the near periphery closer to the vascular arcades and tends to spare the far periphery." "PMID:28981474, https://orcid.org/0000-0003-0986-4123" "Rod-cone dystrophy (HP:0000510)" + "Marcus Gunn pupil" "An aberrant pupillary response characterized by (i) Constriction of pupils of both eyes when the light stimulus is applied to the normal eye, and (ii) Dilatation of pupils of both eyes when the light stimulus is rapidly transferred from the normal eye (after brief light exposure to the normal eye) to the affected eye." "PMID:32491607, PMID:23520419" "Abnormal optic nerve morphology (HP:0000587)" "Relative afferent pupil defect, Relative afferent pupillary defect" + "Hypoplastic optic chiasm" "Developmental defect characterized by undergrowth of the optic chiasm." "PMID:23591992, PMID:23312594" "Abnormal optic chiasm morphology (HP:0025163)" "Optic chiasm hypoplasia" + "Abnormality of fundus pigmentation" "Any anomaly of the pigmentation of the fundus, the posterior part of the eye including the retina and optic nerve." "Abnormal fundus morphology (HP:0001098)" "Alterations in pigmentation of the fundus are typically not a result of changes in the retina. The variable pigmentation within both RPE and choroid combine to change profoundly the appearance of the normal fundus between individuals. This is partly a racial characteristic and partly genetic." + "Congenital hypertrophy of retinal pigment epithelium" "Sharply demarcated, congenital hyperpigmentation of the retinal pigment epithelium." "HPO_CONTRIBUTOR:DDD_ncarter" "Hyperpigmentation of the fundus (HP:0011512)" "This feature is found in around 3-5% of the population and is of no functional significance." + "Pseudopapilledema" "Apparent optic disc swelling in the absence of increased intracranial pressure." "https://orcid.org/0000-0002-0736-9199" "Abnormal optic disc morphology (HP:0012795)" "Papilledema is disk edema secondary to increased intracranial pressure." + "Focal necrotic optic nerve lesion" "A localized area of cell death, often accompanied by infiltration of inflammatory cells, in the optic nerve." "Abnormal optic nerve morphology (HP:0000587)" + "Abnormal peripapillary microvascular network" "The density of the deep peripapillary microvascular network (i.e., the number of blood vessels) is below the lower limit of normal. This finding is observable by optical coherence tomography angiography." "Abnormal optic disc morphology (HP:0012795)" + "Angioid streaks of the fundus" "Irregular lines in the deep retina that are typically configured in a radiating fashion and emanate from the optic disc. Angioid streaks are crack-like dehiscences in abnormally thickened and calcified Bruch's membrane, resulting in atrophy of the overlying retinal pigment epithelium. They may be associated with a number of endocrine, metabolic, and connective tissue abnormalities but are frequently idiopathic." "PMID:30844178, https://orcid.org/0000-0003-0986-4123, https://orcid.org/0000-0002-0736-9199" "Abnormal retinal morphology (HP:0000479)" "Angioid streaks, Angioid streaks, retina, Angioid streaks of the retina, Knapp streaks, Laquer cracks of the retina" "Angioid streaks result from breaks in a weakened Bruch's membrane." + "Retinal capillary hemangioma" "A benign vascular tumor of the retina without any neoplastic characteristics." "https://orcid.org/0000-0002-0736-9199" "Hemangioma (HP:0001028), Retinal hamartoma (HP:0009594), Hemangioblastoma (HP:0010797)" "Retinal hemangioblastoma" + "Lipemia retinalis" "A creamy appearance of the retinal blood vessels that occurs when the concentration of lipids in the blood are extremely increased, with pale pink to milky white retinal vessels and altered pale reflexes from choroidal vasculature." "PMID:16120862, PMID:10379021" "Abnormal retinal vascular morphology (HP:0008046)" "Lipemia retinalis is thought to be directly correlated with the serum triglyceride level; typically, the retinal findings do not occur until the triglyceride level reaches 2500 mg per deciliter (28.2 mmol per liter)." diff --git a/src/sparql/report-eye-ern-workshop.sparql b/src/sparql/report-eye-ern-workshop.sparql new file mode 100644 index 000000000..2c97336f5 --- /dev/null +++ b/src/sparql/report-eye-ern-workshop.sparql @@ -0,0 +1,44 @@ +PREFIX rdf: +prefix owl: +prefix oboInOwl: +prefix rdfs: +prefix IAO: +prefix HP: + +SELECT DISTINCT ?entity ?entity_label ?definition + (GROUP_CONCAT(DISTINCT STR(?definition_source); separator=", ") as ?definition_sources) + (GROUP_CONCAT(DISTINCT STR(?parent); separator=", ") as ?parents) + (GROUP_CONCAT(DISTINCT STR(?synonym); separator=", ") as ?synonyms) +?comment + +WHERE { + ?entity + rdfs:subClassOf* HP:0001098 ; # Abnormal fundus morphology + rdfs:label ?entity_label . + + OPTIONAL { + ?entity rdfs:subClassOf ?parent_id . + ?parent_id rdfs:label ?parent_label . + FILTER(STRSTARTS(STR(?parent_id), "http://purl.obolibrary.org/obo/HP_")) + BIND(CONCAT(CONCAT(CONCAT(?parent_label, " ("), REPLACE(STR(?parent_id), "http://purl.obolibrary.org/obo/HP_","HP:")), ")") as ?parent) + } + + OPTIONAL { + ?entity IAO:0000115 ?definition . + OPTIONAL { + [] owl:annotatedSource ?entity ; + owl:annotatedProperty IAO:0000115 ; + owl:annotatedTarget ?definition ; + oboInOwl:hasDbXref ?definition_source . + } + } + + OPTIONAL { + ?entity oboInOwl:hasExactSynonym ?synonym . + } + + OPTIONAL { + ?entity rdfs:comment ?comment . + } + +} GROUP BY ?entity ?entity_label ?definition ?comment \ No newline at end of file