Ocular albinism with sensorineural deafness

Abstract

Ocular albinism (OA) is an inherited disorder characterized by partial or complete absence of pigment in the eyes. Ocular albinism is inherited in two patterns, X-linked and autosomal pattern. X-linked OA includes type I OA (Nettership-Falls type), type II OA (Forsius-Eriksson type), and OA with late-onset sensorineural deafness. The other includes type III OA (autosomal recessive OA) and OA with sensorineural deafness.(1) Among the subtypes of ocular albinism, OA with sensorineural deafness has characteristic clinical features: blue eyes, multiple lentigines, and congenital sensorineural deafness.(2) This type of ocular albinism is an inherited autosomal dominant trait(2) and is considered to be very rare. We report a 28-year-old female who was diagnosed with OA with sensorineural deafness.