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

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 and 1:20,000 newborns can be a person with albinism, with great variations depending on world areas. Historically, albinism has been categorized into oculocutaneous (OCA) or ocular (OA) types, depending on the organs affected by the hypopigmentation, but, currently, it is recommended to refer the different types of albinism according to the gene that is mutated. Albinism is genetically heterogeneous, with an increasing number of genes that have been reported whose mutations appear to be associated with albinism.....

* 文献收集于互联网,如有任何问题请添加工作微信1453379044处理