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Article

CRB1 mutations in inherited retinal dystrophies.

Human mutation - 1 Feb 2012

Bujakowska Kinga, Audo Isabelle, Mohand-Saïd Saddek, Lancelot Marie-Elise, Antonio Aline, Germain Aurore, Léveillard Thierry, Letexier Mélanie, Saraiva Jean-Paul, Lonjou Christine, Carpentier Wassila, Sahel José-Alain, Bhattacharya Shomi S, Zeitz Christina

Abstract excerpt

Mutations in the CRB1 gene are associated with variable phenotypes of severe retinal dystrophies, ranging from leber congenital amaurosis (LCA) to rod-cone dystrophy, also called retinitis pigmentosa (RP). Moreover, retinal dystrophies resulting from CRB1 mutations may be accompanied by specific fundus features: preservation of the para-arteriolar retinal pigment epithelium (PPRPE) and retinal telangiectasia with...

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Identifiers

PMID: 22065545
DOI: 10.1002/humu.21653
PMCID: PMC3293109

Genes

CRB1

Provenance

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