Choroideremia: a review of general findings and pathogenesis

  • Ophthalmic Genet. 2012 Jun;33(2):57-65. doi: 10.3109/13816810.2011.620056.
Razek Georges Coussa  1 ,  Elias I Traboulsi
Affiliations
  • 1. Faculty of Medicine, McGill University, Montreal, Quebec, Canada.
PMID: 22017263 DOI: 10.3109/13816810.2011.620056
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.