Ocular Albinism

Ocular albinism is an inherited condition in which the eyes have reduced pigment and the retina and visual pathways do not develop fully, causing lifelong reduced vision.

Common symptoms

Reduced visual acuity, nystagmus, sensitivity to bright light, and often a squint or difficulty with depth perception.

Description

Ocular albinism is a genetic condition in which low levels of melanin affect the eyes, while the skin and hair usually appear a normal colour for the family. The most common form is X-linked and mainly affects males, with female carriers sometimes showing subtle changes at the back of the eye.

Almost everyone with ocular albinism has some degree of visual impairment, which is present from birth and does not get worse over time. Common features include nystagmus, misrouting of nerves between the eyes and brain, and an underdeveloped fovea, the part of the retina used for detailed vision.

There is no treatment to restore the missing pigment, but glasses, tinted lenses, low vision aids, and support at school or work can make a significant difference. Ocular albinism sits alongside oculocutaneous albinism, which also affects skin and hair pigment, and both can lead to similar eye findings.