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Article

Ocular and extra-ocular features of patients with Leber congenital amaurosis and mutations in CEP290.

Molecular vision - 1 Jan 2012

Yzer Suzanne, Hollander Anneke I den, Lopez Irma, Pott Jan-Willem R, de Faber Jan Tjeerd H N, Cremers Frans P M, Koenekoop Robert K, van den Born L Ingeborgh

Abstract excerpt

PURPOSE: This study investigated the centrosomal protein, 290-KD (CEP290) associated genotype and ocular and extra-ocular phenotype in 18 patients with Leber congenital amaurosis (LCA). METHODS: Eighteen patients with LCA from 14 families with mutations in the CEP290 gene were identified with sequencing or with heteroduplex analysis. Ophthalmic examinations were performed on all patients. Scans of the central...

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PMID: 22355252
PMCID: PMC3283211

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Ocular and extra-ocular features of patients with Leber congenital amaurosis and mutations in CEP290.PMID 22355252Read ↗

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