DR. NAILA AFTAB

Dr. Prateek Nishant, DR. BHAWESH SAHA, DR. AMIT RAJ

Abstract

Oculocutaneous albinism represents a range of inherited, congenital disorders of hypomelanosis, involving the skin, hair and eyes with an estimated prevalence of 1 in 17,000 cases. Two siblings, a 13-year-old male and a 10-year-old female presented with complaints of poor vision. Both the children had blonde hair, depigmented skin, white eyebrows, white eyelashes, corrected visual acuity poorer than 6/60 in both eyes, hypochromic irides and pendular nystagmus. Dilated fundus examination showed hypopigmented fundus with conspicuous choroidal vessels and no foveal reflex. OCT macula showed absence of foveal pit suggestive of foveal hypoplasia which accounted for poor visual acuity and nystagmus. On pedigree charting the subjects were 2nd and 3rd offspring of non-consanguineous married couple. One each of the mother’s siblings and paternal grandmother’s siblings also had similar disorder. This report thus represents typical presentation of autosomal recessive oculo-cutaneous albinism.