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Article

A new PDE6A missense variant p.Arg544Gln in rod-cone dystrophy.

Documenta ophthalmologica. Advances in ophthalmology - 1 Aug 2021

Hayashi Takaaki, Mizobuchi Kei, Kameya Shuhei, Yoshitake Kazutoshi, Iwata Takeshi, Nakano Tadashi

Abstract excerpt

PURPOSE: Thus far, only one Japanese patient with autosomal recessive rod-cone dystrophy (AR-RCD) associated with the phosphodiesterase 6A gene (PDE6A) has been reported. The purpose of this study was to analyze the clinical features of a Japanese female patient with AR-RCD with a novel missense variant in PDE6A. METHODS: We performed whole-exome sequencing (WES) to identify the disease-causing variant and a...

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PMID: 33611760
DOI: 10.1007/s10633-021-09826-y

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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