Article
The retinal pigmentation pathway in human albinism: Not so black and white.
Progress in retinal and eye research - 1 Nov 2022
Bakker Reinier, Wagstaff Ellie L, Kruijt Charlotte C, Emri Eszter, van Karnebeek Clara D M, Hoffmann Michael B, Brooks Brian P, Boon Camiel J F, Montoliu Lluis, van Genderen Maria M, Bergen Arthur A
Abstract excerpt
Albinism is a pigment disorder affecting eye, skin and/or hair. Patients usually have decreased melanin in affected tissues and suffer from severe visual abnormalities, including foveal hypoplasia and chiasmal misrouting. Combining our data with those of the literature, we propose a single functional genetic retinal signalling pathway that includes all 22 currently known human albinism disease genes. We...
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