| HPO |
HP:0000518 |
Cataract |
"A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule." [HPO:probinson] |
Note that some ophthalmologists call any opacity in the lens a cataract, while others restrict the term to lens opacities that impair vision. We use the term to refer to the first meaning (any lens opacity). |
HP:0000517 |
| HPO |
HP:0000519 |
Developmental cataract |
"A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens." [HPO:probinson] |
In general, congenital cataracts are bilateral and that is the assumption with the terms in this cataract subhierarchy. |
HP:0000518, HP:0007700 |
| HPO |
HP:0000520 |
Proptosis |
"An eye that is protruding anterior to the plane of the face to a greater extent than is typical." [HPO:sdoelken, PMID:19125427] |
Some sources define "exophthalmos" as a protrusion of the globe greater than 18 mm and "proptosis" as a protusion equal to or less than 18 mm. Others define "exophthalmos" as protusion secondary to endocrine dysfunction and "proptosis" as any non-endocrine-mediated protusion (Source: Wikipedia). This finding should be distinguished frm underdevelopment of the supraorbital ridge or maxilla/zygoma. In proptosis, the globe is anteriorly protuberant to the overall plane of the face. |
HP:0100886 |
| HPO |
HP:0000522 |
Alacrima |
"Absence of tear secretion." [HPO:probinson] |
Alacrima is generally a congenital deficiency. |
HP:0000633 |
| HPO |
HP:0000523 |
Subcapsular cataract |
"A cataract that affects the region of the lens directly beneath the capsule of the lens." [HPO:probinson] |
— |
HP:0000518 |
| HPO |
HP:0000524 |
Conjunctival telangiectasia |
"The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the conjunctiva." [HPO:probinson] |
— |
HP:0008054, HP:0100579 |
| HPO |
HP:0000525 |
Abnormality iris morphology |
"An abnormality of the iris, which is the pigmented muscular tissue between the cornea and the lens, that is perforated by an opening called the pupil." [HPO:probinson] |
— |
HP:0000553, HP:0004328 |
| HPO |
HP:0000526 |
Aniridia |
"Abnormality of the iris characterized by, typically bilateral, complete or partial iris hypoplasia. The phenotype ranges from mild defects of anterior iris stroma only to almost complete absence of the iris." [HPO:probinson, PMID:24138039, PMID:25313118, PMID:29850208, UManchester:psergouniotis] |
— |
HP:0008053 |
| HPO |
HP:0000527 |
Long eyelashes |
"Mid upper eyelash length >10 mm or increased length of the eyelashes (subjective)." [PMID:19125427, PMID:26288407] |
Measurement should be done on the longest lashes, which are usually at the center of the lid. Normal values are 7.99 - 1.05 mm in boys and 7.76 - 1.03 mm in girls. Note that Eyelash trichomegaly is defined as increase in length (12 mm or more), curling, pigmentation or thickness of eyelashes. |
HP:0000499 |
| HPO |
HP:0000528 |
Anophthalmia |
"Absence of the globe or eyeball." [DDD:ncarter] |
— |
HP:0008056, HP:0100887 |
| HPO |
HP:0000529 |
Progressive visual loss |
"A reduction of previously attained ability to see." [HPO:probinson] |
— |
HP:0000572 |
| HPO |
HP:0000531 |
Corneal crystals |
— |
— |
HP:0007759 |
| HPO |
HP:0000532 |
Abnormal chorioretinal morphology |
"An abnormality of the choroid and retina." [HPO:probinson] |
The choroid is the vascular layer of the eye, located between the retina and the sclera. |
HP:0000479, HP:0000610 |
| HPO |
HP:0000533 |
Chorioretinal atrophy |
"Atrophy of the choroid and retinal layers of the fundus." [HPO:probinson, PMID:20224472] |
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. |
HP:0200065 |
| HPO |
HP:0000534 |
Abnormal eyebrow morphology |
"An abnormality of the eyebrow." [HPO:probinson] |
— |
HP:0001595, HP:0030669 |
| HPO |
HP:0000535 |
Sparse and thin eyebrow |
"Decreased density/number and/or decreased diameter of eyebrow hairs." [PMID:19125427] |
Sparseness can be regional (medial, central, lateral) or total. These modifiers should be incorporated into the term, when appropriate. |
HP:0045074, HP:0045075 |
| HPO |
HP:0000537 |
Epicanthus inversus |
"A fold of skin starting at or just below the medial aspect of the lower lid and arching upward to cover, extend in front of and lateral to the medial canthus." [PMID:19125427] |
— |
HP:0000286 |
| HPO |
HP:0000538 |
Pseudopapilledema |
"Apparent optic disc swelling in the absence of increased intracranial pressure." [HPO:probinson] |
Papilledema is disc edema secondary to increased intracranial pressure. |
HP:0012795 |
| HPO |
HP:0000539 |
Abnormality of refraction |
"An abnormality in the process of focusing of light by the eye in order to produce a sharp image on the retina." [HPO:probinson] |
— |
HP:0012373 |
| HPO |
HP:0000540 |
Hypermetropia |
"An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry." [HPO:probinson] |
The American Optometric Association subdivides hypermetropia into (i) low (up to +2D), moderate (2 to 5D), and high (over 5D). |
HP:0000539 |
| HPO |
HP:0000541 |
Retinal detachment |
"Separation of the inner layers of the retina (neural retina) from the pigment epithelium." [HPO:probinson] |
— |
HP:0000479 |
| HPO |
HP:0000542 |
Impaired ocular adduction |
"Reduced ability to move the eye in the direction of the nose." [HPO:probinson] |
Contraction of the medial rectus pulls the eye towards the nose (adduction or medial movement). |
HP:0000496 |
| HPO |
HP:0000543 |
Optic disc pallor |
"A pale yellow discoloration of the optic disk (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression." [HPO:probinson] |
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. |
HP:0012795 |
| HPO |
HP:0000544 |
External ophthalmoplegia |
"Paralysis of the external ocular muscles." [HPO:probinson] |
— |
HP:0000602 |
| HPO |
HP:0000545 |
Myopia |
"An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry." [HPO:probinson] |
— |
HP:0000539 |