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Article

Prevalence of mutations in eyeGENE probands with a diagnosis of autosomal dominant retinitis pigmentosa.

Investigative ophthalmology & visual science - 19 Sept 2013

Sullivan Lori S, Bowne Sara J, Reeves Melissa J, Blain Delphine, Goetz Kerry, Ndifor Vida, Vitez Sally, Wang Xinjing, Tumminia Santa J, Daiger Stephen P

Abstract excerpt

PURPOSE: To screen samples from patients with presumed autosomal dominant retinitis pigmentosa (adRP) for mutations in 12 disease genes as a contribution to the research and treatment goals of the National Ophthalmic Disease Genotyping and Phenotyping Network (eyeGENE). METHODS: DNA samples were obtained from eyeGENE. A total of 170 probands with an intake diagnosis of adRP were tested through enrollment in...

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Source

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Identifiers

PMID: 23950152
DOI: 10.1167/iovs.13-12605
PMCID: PMC3778873

Genes

PRPF31
PRPH2
RHO
RPGR
IMPDH1
KLHL7
PRPF3
PRPF8
TOPORS

Provenance

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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