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Article

Autosomal dominant retinitis pigmentosa with macular involvement associated with a disease haplotype that included a novel PRPH2 variant (p.Cys250Gly).

Ophthalmic genetics - 1 Jun 2018

Katagiri Satoshi, Hayashi Takaaki, Mizobuchi Kei, Yoshitake Kazutoshi, Iwata Takeshi, Nakano Tadashi

Abstract excerpt

BACKGROUND: It is known that PRPH2 variants appear to be rare causes of retinitis pigmentosa (RP) in the Japanese population. The purpose of this study was to describe clinical and genetic features in autosomal dominant RP (adRP) patients with a novel disease-causing variant in the PRHP2 gene. MATERIALS AND METHODS: A total of 57 unrelated Japanese probands with adRP were investigated in this study. Comprehensive...

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Source

Identifiers

PMID: 29630435
DOI: 10.1080/13816810.2018.1459737

Genes

PRPH2

Variants

Provenance

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