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Reduced rod electroretinograms in carrier parents of two Japanese siblings with autosomal recessive retinitis pigmentosa associated with PDE6B gene mutations.

Documenta ophthalmologica. Advances in ophthalmology - 1 Aug 2015

Kuniyoshi Kazuki, Sakuramoto Hiroyuki, Yoshitake Kazutoshi, Ikeo Kazuho, Furuno Masaaki, Tsunoda Kazushige, Kusaka Shunji, Shimomura Yoshikazu, Iwata Takeshi

Abstract excerpt

PURPOSE: To present the clinical and genetic findings in two siblings with autosomal recessive retinitis pigmentosa (RP) and their non-symptomatic parents. METHODS: We studied two siblings, a 48-year-old woman and her 44-year-old brother, and their parents. They had general ophthalmic examinations including ophthalmoscopy, perimetry, and electroretinography (ERG). Their whole exomes were analyzed by the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 25827439
DOI: 10.1007/s10633-015-9497-7

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ERG

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