A new type of syndromic albinism associated with mutations in AP3D1.

Abstract

Albinism is a rare genetic condition affecting approximately 1:17,000 newborns in Europe and North America. The disease is mainly characterized by poor vision, which is most often (but not always) presented with variable hypopigmentation of the hair, skin and eyes. Visual abnormalities include foveal hypoplasia and retinal axon misrouting at the optic chiasm, resulting in reduced visual acuity and altered stereoscopic vision, respectively (Montoliu et al. 2014). Albinism can exist in isolation (non-syndromic) or in combination with additional system abnormalities (syndromic). This article is protected by copyright. All rights reserved.