| HPO |
HP:0011493 |
Central opacification of the cornea |
"Reduced transparency of the central portion of the corneal stroma." [DDD:ncarter] |
— |
HP:0007759 |
| HPO |
HP:0011494 |
Generalized opacification of the cornea |
"Generalized reduced transparency of the stroma of the cornea." [DDD:gblack] |
— |
HP:0007759 |
| HPO |
HP:0011495 |
Abnormal corneal epithelium morphology |
"Abnormality of the corneal epithelium, that is of the epithelial tissue that covers the front of the cornea." [DDD:gblack] |
— |
HP:0000481 |
| HPO |
HP:0011496 |
Corneal neovascularization |
"Ingrowth of new blood vessels into the cornea." [DDD:ncarter, PMID:22898649] |
New blood vessels, which sprout from the capillaries and venules of the pericorneal plexus, may block light, compromise visual acuity, and lead to inflammation, corneal scarring, and edema. Corneal neovascularization may be a consequence of corneal hypoxia. Neovascular patterns can be separated into three clinical groups: deep neovascularization overlying Descemet's membrane (seen in herpetic and luetic interstitial keratitis), stromal neovascularization (as a result of stromal keratitis), and vascular pannus (from ocular surface disorders). Corneal pannus is subepithelial fibrovascular tissue ingrowth from the limbus onto the cornea that can be observed with corneal neovascularization. |
HP:0000481 |
| HPO |
HP:0011497 |
Iris neovascularization |
"New growth of vessels on the surface of the iris." [DDD:ncarter] |
— |
HP:0007905 |
| HPO |
HP:0011498 |
obsolete Partial aniridia |
— |
— |
— |
| HPO |
HP:0011499 |
Mydriasis |
"Abnormal dilatation of the iris." [DDD:ncarter] |
— |
HP:0007686 |
| HPO |
HP:0011500 |
Polycoria |
"Multiple pupils." [DDD:ncarter] |
— |
HP:0000615 |
| HPO |
HP:0011501 |
Anterior lenticonus |
"A conical projection of the anterior surface of the lens, occurring as a developmental anomaly." [DDD:gblack] |
— |
HP:0001142 |
| HPO |
HP:0011502 |
Posterior lenticonus |
"A conical projection of the posterior surface of the lens, occurring as a developmental anomaly." [DDD:gblack] |
— |
HP:0001142 |
| HPO |
HP:0011503 |
Aplasia of the fovea |
"Congenital absence of the fovea." [HPO:probinson] |
Aplasia of the fovea can occur in aniridia and albinism. |
HP:0008060 |
| HPO |
HP:0011504 |
Bull's eye maculopathy |
"Progressive maculopathy characterized by concentric regions of hyper- and hypo-pigmentation." [DDD:gblack] |
— |
HP:0008002 |
| HPO |
HP:0011505 |
Cystoid macular edema |
"Cystoid macular edema (CME) is any type of macular edema that involves cyst formation." [DDD:ncarter] |
CME can occur with Irvine-Gass syndrome and other disorders. |
HP:0040049 |
| HPO |
HP:0011506 |
Choroidal neovascularization |
"Choroidal neovascularization (CNV) is the creation of new blood vessels in the choroid layer of the eye." [DDD:ncarter] |
This is a common symptom of the degenerative maculopathy wet age-related macular degeneration. |
HP:0001103, HP:0025568 |
| HPO |
HP:0011507 |
Macular flecks |
"Pale often indistinct lesions of the macula." [DDD:gblack] |
— |
HP:0030500 |
| HPO |
HP:0011508 |
Macular hole |
"A macular hole is a small break in the macula, located in the center of the retina." [DDD:ncarter] |
— |
HP:0001103, HP:0011958 |
| HPO |
HP:0011509 |
Macular hyperpigmentation |
"Increased amount of pigmentation in the macula lutea." [DDD:ncarter] |
— |
HP:0008002 |
| HPO |
HP:0011510 |
Drusen |
"Drusen (singular, 'druse') are tiny yellow or white accumulations of extracellular material (lipofuscin) that build up in Bruch's membrane of the eye." [DDD:gblack] |
— |
HP:0030506 |
| HPO |
HP:0011511 |
Macular schisis |
"Splitting of the retina in the macular region." [DDD:gblack] |
This abnormality can be seen in X-linked retinoschisis. |
HP:0030498 |
| HPO |
HP:0011512 |
Hyperpigmentation of the fundus |
"Increased pigmentation of the fundus" [DDD:ncarter, ORCID:0000-0003-0986-4123] |
— |
HP:0031605 |
| HPO |
HP:0011513 |
Retinal cavernous angioma |
"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." [HPO:probinson, PMID:20844673] |
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. |
HP:0007797 |
| HPO |
HP:0011514 |
Abnormality of binocular vision |
"An abnormality of binocular vision, that is of the ability to synthesize the visual inputs from both eyes to a single image with perception of depth." [DDD:ncarter] |
— |
HP:0000504 |
| HPO |
HP:0011515 |
Abnormal stereopsis |
"Inability to make fine depth discriminations from parallax provided by the two eyes' different positions on the head." [DDD:gblack] |
— |
HP:0011514 |
| HPO |
HP:0011516 |
Achromatopsia |
"A condition where the retina contains no functional cone cells, so that in addition to the absence of color discrimination, vision in lights of normal intensity is difficult." [DDD:gblack, PMID:12015282] |
The end stage of cone degeneration is rod monochromacy, also called achromatopsia, in which vision is mediated exclusively by rod photoreceptors. Rod monochromacy can also be manifest from birth and can be due to congenitally absent or dysfunctional cone photoreceptors. There is no rod counterpart to cone degeneration; all rod photoreceptor degenerations have a secondary loss of cones and are categorized as retinitis pigmentosa. |
HP:0007803 |
| HPO |
HP:0011517 |
Cone monochromacy |
"The condition of having both rods and cones, but only a single kind of cone. Affected individuals have good pattern vision in daylight, but cannot distinguish between colors." [DDD:ncarter] |
There are three differing forms of cone monochromacy, named according to the residual functioning cone class, (1) blue cone (S-cone) monochromacy, green cone (M-cone) monochromacy, and red cone (L-cone) monochromacy. |
HP:0007803 |