Ocular albinism

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

Ocular albinism
Specialty	Endocrinology

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]

Types

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]