The retinal pigmentation pathway in human albinism: Not so black and white

https://www.sciencedirect.com/science/article/pii/S1350946222000519?via%3Dihub

We conceptualized one single disease pathway correlating all 22 known albinism genes with the corresponding cellular defects and disease pathology, and discuss mechanisms for the down-stream neural signaling pathways involved. This has important implications for our understanding of albinism and (retinal) pigmentation, further systematic research and development of therapies.