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CRB1 mutations in inherited retinal dystrophies

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

Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
446 KB
Volume
33
Category
Article
ISSN
1059-7794

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✦ Synopsis

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 exudation (also referred to as Coats-like vasculopathy). In this publication, we report seven novel mutations and classify over 150 reported CRB1 sequence variants that were found in more that 240 patients. The data from previous reports were used to analyze a potential correlation between CRB1 variants and the clinical features of respective patients. This meta-analysis suggests that the differential phenotype of patients with CRB1 mutations is due to additional modifying factors rather than particular mutant allele combination.

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