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Documenta Ophthalmologica
Published in: Documenta Ophthalmologica 1/2015

01-08-2015 | Clinical Case Report

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

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

Published in: Documenta Ophthalmologica | Issue 1/2015

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Abstract

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 next-generation sequence technique.

Results

The two siblings had night blindness for a long time, and clinical examinations revealed diffuse retinal degeneration with bone spicule pigmentation, constriction of the visual field, and non-recordable ERGs. Their parents were non-symptomatic and had normal fundi; however, their rod ERGs were reduced. Genetic examination revealed compound heterozygous mutations of I535N and H557Y in the PDE6B gene in the siblings, and the parents were heterozygous carriers of the mutations.

Conclusions

Heterozygous mutation in the PDE6B gene can cause a reduction in the rod function to different degrees. The retinal function of non-symptomatic carriers of autosomal recessive RP should be evaluated with care.
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Metadata
Title
Reduced rod electroretinograms in carrier parents of two Japanese siblings with autosomal recessive retinitis pigmentosa associated with PDE6B gene mutations
Authors
Kazuki Kuniyoshi
Hiroyuki Sakuramoto
Kazutoshi Yoshitake
Kazuho Ikeo
Masaaki Furuno
Kazushige Tsunoda
Shunji Kusaka
Yoshikazu Shimomura
Takeshi Iwata
Publication date
01-08-2015
Publisher
Springer Berlin Heidelberg
Published in
Documenta Ophthalmologica / Issue 1/2015
Print ISSN: 0012-4486
Electronic ISSN: 1573-2622
DOI
https://doi.org/10.1007/s10633-015-9497-7

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