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Article

CEP290 Mutation Spectrum and Delineation of the Associated Phenotype in a Large German Cohort: A Monocentric Study.

American journal of ophthalmology - 1 Mar 2020

Feldhaus Britta, Weisschuh Nicole, Nasser Fadi, den Hollander Anneke I, Cremers Frans P M, Zrenner Eberhart, Kohl Susanne, Zobor Ditta

Abstract excerpt

PURPOSE: Gene therapy for Leber congenital amaurosis (LCA) is becoming available, and therefore it is crucial to identify eligible candidates. We report the spectrum and associated phenotype of CEP290 mutations in the largest German cohort observed by a single clinical site. DESIGN: Prospective cohort study. METHODS: Twenty-three patients with mutations in CEP290 were included. Genomic DNA was analyzed by Sanger...

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Identifiers

PMID: 31734136
DOI: 10.1016/j.ajo.2019.11.012

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