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Article

Screening for a canine model of choroideremia exclusively identifies nonpathogenic CHM variants.

Ophthalmic research - 1 Jan 2011

Robert Lorenne, Sénéchal Audrey, Bocquet Béatrice, Herbin Laetitia, Chaudieu Gilles, Kalatzis Vasiliki, André Catherine, Hamel Christian P

Abstract excerpt

Choroideremia is an X-linked, progressive photoreceptor degeneration disorder due to mutations in CHM. In addition to an atrophy of the outer retina, affected individuals present with a characteristic atrophy of the choroid. To search for a canine model, we screened the CHM gene of 37 dogs (22 breeds) with various forms of retinal dystrophies. We found 21 variations in 13 breeds (17 detected in only one breed and...

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Source

Identifiers

PMID: 20861657
DOI: 10.1159/000313992

Genes

CHM

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Analysis of a large choroideremia dataset does not suggest a preference for inclusion of certain genotypes in future trials of gene therapySemantic proximity Read ↗

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