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Updated: May 28, 2026

Enrichment of Bruch's Membrane from Human Donor Eyes
Published on: November 15, 2015
Choroideremia: a review of general findings and pathogenesis
Razek Georges Coussa1, Elias I Traboulsi
1Faculty of Medicine, McGill University, Montreal, Quebec, Canada.
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.
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