Prog Retin Eye Res 2022 Jun 18:101091. Epub 2022 Jun 18.
Department of Human Genetics, Section Ophthalmogenetics, Amsterdam UMC, Location AMC, Amsterdam, the Netherlands; Emma Center for Personalized Medicine (ECPM), Amsterdam UMC, Location AMC, Amsterdam, the Netherlands; Department of Ophthalmology, Amsterdam UMC, Location AMC, Amsterdam, the Netherlands; The Netherlands Institute for Neuroscience (NIN-KNAW), Amsterdam, the Netherlands. Electronic address:
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. Read More