Fundus Albipunctatus Associated with Compound Heterozygous Mutations in RPE65

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Long-term fundus changes due to Fundus albipunctatus associated with mutations in the RDH5 gene.

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Fundus albipunctatus: novel mutations and phenotypic description of Israeli patients

PURPOSE To characterize the genetic defects associated with fundus albipunctatus (FAP) in patients in Israel. METHODS Twenty patients with FAP from diverse ethnicities underwent ophthalmic and electroretinogram tests following the International Society for Clinical Electrophysiology of Vision protocol. Genomic DNA was extracted from peripheral blood. Mutation analysis of the 11-cis retinol de...

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Mutations in the 11-cis retinol dehydrogenase gene in Japanese patients with Fundus albipunctatus.

PURPOSE To detect mutations in the RDH5 gene encoding 11-cis retinol dehydrogenase in patients from Japan with fundus albipunctatus. METHODS Polymerase chain reaction and direct genomic sequencing techniques were used to detect mutations of the RDH5 coding exons (exons 2-5) in two unrelated patients with fundus albipunctatus. Selected alleles that altered the coding region or intron splice si...

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A high association with cone dystrophy in Fundus albipunctatus caused by mutations of the RDH5 gene.

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ژورنال

عنوان ژورنال: Ophthalmology

سال: 2011

ISSN: 0161-6420

DOI: 10.1016/j.ophtha.2010.09.005