Choroideremia: a review of general findings and pathogenesis.
Choroideremia (CHM) is an X-linked retinal dystrophy belonging to the family of blinding disorders. It is characterized by progressive degeneration of the choriocapillaris, retinal pigment epithelium and photoreceptors. CHM is caused by mutations in the Rab Escort Protein 1 (REP-1) gene, which encodes a protein involved in vesicular trafficking. This paper gives an overview of the clinical features, visual function, biochemistry, histology, molecular genetics, pathogenesis, diagnosis and treatment of CHM.
Faculty of Medicine, McGill University, Montreal, Quebec, Canada.
Razek Georges
RG
Coussa
Elias I
EI
Traboulsi
D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics; D015794:Choroideremia / Q000175:diagnosis* / Q000209:etiology* / Q000235:genetics; D006801:Humans; D009154:Mutation
D048868:Adaptor Proteins, Signal Transducing; C081787:CHM protein, human