Choroideremia is caused by a defective phagocytosis by the RPE of photoreceptor disc membranes, not by an intrinsic photoreceptor defect.
Koenekoop
Robert K
RK
McGill Ocular Genetics Center, McGill University Health Center, Montreal, Canada. robert.koenekoop@muhc.mcgill.ca
D048868:Adaptor Proteins, Signal Transducing / Q000172:deficiency; D000818:Animals; D030801:Animals, Genetically Modified; D015794:Choroideremia / Q000209:etiology*; D004195:Disease Models, Animal; D006801:Humans; D010587:Phagocytosis; D020419:Photoreceptor Cells, Vertebrate; D012374:Rod Cell Outer Segment / Q000503:physiopathology*; D015027:Zebrafish; D029961:Zebrafish Proteins
D048868:Adaptor Proteins, Signal Transducing; D029961:Zebrafish Proteins; C525249:chm protein, zebrafish