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I. Perrault, S. Hanein, S. Gerber, H. Dollfus, C. Hamel, J.–L.L. Dufier, A. Munnich, J.–M.M. Rozet, J. Kaplan; Prevalence of Retinal Dehydrogenase 12 (RDH12) Mutations in Leber Congenital Amaurosis and Genotype–Phenotype Correlations . Invest. Ophthalmol. Vis. Sci. 2005;46(13):1816.
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Purpose: Leber congenital amaurosis (LCA), the most early–onset and severe form of all inherited retinal dystrophies, is responsible for congenital blindness. Eleven LCA genes have been mapped, and eight of these have been identified. Recently, we reported the respective frequencies of mutations in each of the first seven LCA genes in a series of 179 unrelated patients. The purpose of this study was to determine the prevalence of mutations in the newly identified LCA gene, RDH12, in an enlarged series of 300 patients affected with LCA. Methods: The 7 exons encoding RDH12 were screened for mutations by DHPLC and direct sequencing using specific primers designed from intronic, 5’ and 3’ UTR sequences. Patients to be screened at first were selected on the basis of their retinal phenotype i.e. affected with the "severe yet progressive rod dystrophy" form of the disease (LCA subtype II). Results: Mutations were identified in 13/300 patients of our series (4.3 %). When patients affected with the second subtype of the disease were considered alone, mutations of RDH12 accounted for 10.8% (13/119) of cases. Conclusions: This study demonstrates that the natural history of the disease since birth, associated with the light behaviour of patients, the refraction data and the description of the fundus are essential to selected LCA genes to screen in priority and thus to lighten the molecular diagnosis of this highly genetically heterogeneous condition.
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