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Article

Clinical and genetic findings of a Japanese patient with RP1-related autosomal recessive retinitis pigmentosa.

Documenta ophthalmologica. Advances in ophthalmology - 1 Aug 2018

Kurata Kentaro, Hosono Katsuhiro, Hotta Yoshihiro

Abstract excerpt

PURPOSE: This study reports the ophthalmic and genetic findings of a Japanese patient with autosomal recessive retinitis pigmentosa (arRP) caused by retinitis pigmentosa 1 (RP1) mutations. PATIENT AND METHODS: The 34-year-old female patient and her unaffected parents underwent comprehensive ophthalmic examinations, including visual acuity measurements, perimetry, electroretinography (ERG), and optical coherence...

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Identifiers

PMID: 30027431
DOI: 10.1007/s10633-018-9649-7

Genes

ERG

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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