In ocular albinism the defect in melanin production is limited to the eye. The inheritance is almost invariably X-linked recessive.
There are 3 sub-types; (1)
Ocular albinism type 1 (OA1)
Also called the Nettleship-Falls type, this is the most common form, found in 1 in 50,000 people. It is an X-linked recessive ocular albinism and so affects predominantly males.
The retinal pigment epithelium lacks pigment but cells elsewhere are normal and there is usually nystagmus. There is also a red pupillary reflex, prominent choroidal vessels, photophobia and impaired visual acuity.
Ocular albinism type 2 (OA2)
Also known as Forsius-Eriksson syndrome, and Åland Island eye disease, this is also X-linked recessive.
There is foveal hypoplasia with marked visual impairment, nystagmus, myopia, and astigmatism. Night blindness is common and red-green colour blindness is absolute.
Autosomal recessive ocular albinism (AROA)
This a group of genetic disorders where reduced pigmentation of the eye is associated with decreased visual acuity, nystagmus, strabismus, and photophobia. However, pigmentation of the skin and hair is usually normal.
Some studies have suggested that this type of ocular albinism may in fact be a mild version of OCA type I or II (2)
References
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