HPS11 and OCA8: Two new types of albinism associated with mutations in BLOC1S5 and DCT genes.

Abstract

Albinism is a rare genetic condition associated with profound visual alterations and a variable hypopigmentation phenotype. The impairment of the visual system includes diagnostic foveal hypoplasia along with misrouting of retinal axons at the optic chiasm, whose consequences are a reduced visual acuity and altered stereoscopic vision, respectively. It is assumed that between 1:10,000-20,000 newborns can be a person with albinism, with great variations depending on world areas.