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• W2024160187 abstract "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." @default.
• W2024160187 created "2016-06-24" @default.
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• W2024160187 date "2011-10-21" @default.
• W2024160187 modified "2023-10-17" @default.
• W2024160187 title "Choroideremia: A review of general findings and pathogenesis" @default.
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• W2024160187 doi "https://doi.org/10.3109/13816810.2011.620056" @default.
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