Dr.Hema Sai Gongati

Dr.Viswamithra Penumala, Dr.Rishitha Srinidhi Boddu, Dr.Nikhila Sai Nallapati

Abstract

Oculocutaneous albinism is a group of disorders in which melanin bio synthesis is disrupted , typically resulting in no pigmentation , or a reduction of pigmentation of hair , skin and eyes . These conditions are inherited in an autosomal recessive pattern .Incidence is between 1:1000 and 1:20,000.
This series presents cases of 2 siblings born out of third degree consanguineous marriage presented to our hospital with oculocutaneous albinism. The kids have photophobia, congenital nystagmus, color vision impairment, foveal hypoplasia, and marked prominence of loop shaped choroidal vasculature, Albinotic fundus was seen.