Ocular manifestations in albinism

Abstract

Albinism is a hereditary condition characterized by hypopigmentation in the skin, eye and hair due to enzymatic defect or lack of enzymes in the melanin synthesis pathway and affects 1 in 17,000 people worldwide. Ocular manifestation such as photophobia, abnormal decussation of the optic nerve, nystagmus, strabismus, foveal hypoplasia, iris trans-illumination, decrease in visual acuity, refractory errors and astigmatism are classically seen in patients with albinism. In rare situations other ocular manifestation such as keratoconus can be seen with albinism.