ocular albinism

Ocular albinism is a rare, inherited condition that affects only the eyes, unlike oculocutaneous albinism which impacts skin, hair, and eyes. It is estimated to occur in about 1 in 50,000 individuals. The most common form, Nettleship-Falls syndrome, is X-linked, meaning it is passed down on the X chromosome. While both males and females can be affected, males often experience more severe symptoms due to having only one X chromosome.1

The pathology of ocular albinism involves the development of abnormally large structures called melanosomes, which are responsible for synthesizing and storing melanin, the pigment that gives color to skin, hair, and eyes. The exact mechanism by which these macromelanosomes lead to albinism is not fully understood.1

Common vision abnormalities associated with ocular albinism include astigmatism, nystagmus (involuntary rapid eye movements), and photophobia (extreme sensitivity to light). The iris typically appears pink, and the pupil looks red due to light reflecting from the blood vessels in the unpigmented choroid layer of the eye.12