Reduced rod electroretinograms in carrier parents of two Japanese siblings with autosomal recessive retinitis pigmentosa associated with PDE6B gene mutations
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To present the clinical and genetic findings in two siblings with autosomal recessive retinitis pigmentosa (RP) and their non-symptomatic parents.
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.
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.
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.
KeywordsPDE6B Retinitis pigmentosa Congenital stationary night blindness Electroretinograms Carrier Autosomal recessive Japanese
The authors thank Professor Duco Hamasaki of the Bascom Palmer Eye Institute of the University of Miami for critical discussion and final manuscript revisions; Miss Seiko Kawamura, CO, of the Seichokai Fuchu Hospital (Osaka, Japan); and Mr. Tomoaki Nishio of TOMEY Corporation (Nagoya, Japan) for their assistance for ERG examinations. The authors wish to acknowledge RIKEN GeNAS for the sequencing of the exome-enriched libraries. This research was supported by the research grants to T.I., K.T., and K.K. from the Ministry of Health, Labour and Welfare, Japan (13803661), to K.T. and K.K. from the Ministry of Health, Labour and Welfare, Japan (23164001), Y.S from the Ministry of Health, Labour and Welfare, Japan (82259921), S.K. and K.K. from Japan Society for the Promotion of Science, Japan (23592597), and to M.F. from the Japanese Ministry of Education, Culture, Sports, Science and Technology (MEXT) for RIKEN Omics Science Center.
Conflict of interest
All authors have no commercial interests related to this research.
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