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Article

Choroideremia: a review of general findings and pathogenesis.

Ophthalmic genetics - 1 Jun 2012

Coussa Razek Georges, Traboulsi Elias I

Abstract excerpt

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...

Topics

Adaptor Proteins, Signal Transducing
Choroideremia
Humans
Mutation

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 22017263
DOI: 10.3109/13816810.2011.620056

Genes

CHM

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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