Ocular albinism | |
---|---|
Specialty | Endocrinology ![]() |
Ocular albinism is a form of albinism which, in contrast to oculocutaneous albinism, presents primarily in the eyes.[1] There are multiple forms of ocular albinism, which are clinically similar.[2]: 865
Both known genes are on the X chromosome. When the term "autosomal recessive ocular albinism" ("AROA") is used, it usually refers to mild variants of oculocutaneous albinism rather than ocular albinism, which is X-linked.[3]
Name | OMIM | Gene | Description |
Ocular albinism, type 1 (OA1) | 300500 | GPR143 | Also known as Nettleship–Falls syndrome,[4][5][6] is the most common variety of ocular albinism. OA1 is usually associated with nystagmus, and difficult to otherwise detect in females; males show more readily observable symptoms. |
Ocular albinism, type 2 (OA2) | 300600 | CACNA1F[7] | Also known as Forsius–Eriksson syndrome[8][9] or "Åland eye disease", mostly affects males, though females are often carriers and can sometimes be symptomatic; it is frequently linked with protanopic dichromacy (a form of color blindness) and with night blindness (nyctalopia). |
Ocular albinism with sensorineural deafness (OASD) | 300650 | ? (Xp22.3) | Is, as its name implies, associated with loss of hearing. May be the same as OA1.[10] |
Hypo-/ leucism |
| ||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Hyper- |
| ||||||||||||||||||||
Dyschromia | |||||||||||||||||||||
See also |
X-linked disorders | |||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| |||||||||||||||||||||||
Calcium channel |
| ||||
---|---|---|---|---|---|
Sodium channel |
| ||||
Potassium channel |
| ||||
Chloride channel | |||||
TRP channel | |||||
Connexin | |||||
Porin | |||||
See also: ion channels |