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Article

Comprehensive molecular diagnosis of a large cohort of Japanese retinitis pigmentosa and Usher syndrome patients by next-generation sequencing.

Investigative ophthalmology & visual science - 16 Oct 2014

Oishi Maho, Oishi Akio, Gotoh Norimoto, Ogino Ken, Higasa Koichiro, Iida Kei, Makiyama Yukiko, Morooka Satoshi, Matsuda Fumihiko, Yoshimura Nagahisa

Abstract excerpt

PURPOSE: Retinitis pigmentosa (RP), a major cause of blindness in developed countries, has multiple causative genes; its prevalence differs by ethnicity. Usher syndrome is the most common form of syndromic RP and is accompanied by hearing impairment. Although molecular diagnosis is challenging, recent technological advances such as targeted high-throughput resequencing are efficient screening tools. METHODS: We...

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Identifiers

PMID: 25324289
DOI: 10.1167/iovs.14-15458

Genes

EYS
RHO

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

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