The AP5B1 p.(Leu785Pro) variant is a frequent cause of late-onset macular dystrophy with variable extraocular manifestations
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Inherited retinal diseases (IRDs) represent a large group of genetically heterogeneous disorders that often cause progressive visual loss. The fifth adaptor protein (AP-5) complex, which contributes to endolysosomal trafficking and lysosomal homeostasis, has p... ...
