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Article

Phenotype associated with mutation in the recently identified autosomal dominant retinitis pigmentosa KLHL7 gene.

Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Jun 2010

Hugosson Therése, Friedman James S, Ponjavic Vesna, Abrahamson Magnus, Swaroop Anand, Andréasson Sten

Abstract excerpt

OBJECTIVE: To characterize the clinical phenotype, with an emphasis on electrophysiologic findings, in a family with autosomal dominant retinitis pigmentosa caused by mutation in the recently identified KLHL7 gene. METHODS: Eleven patients from a single family were selected from the Swedish retinitis pigmentosa register. Four patients had been examined 13 to 17 years earlier and underwent further ophthalmologic...

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Source

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Identifiers

PMID: 20547956
DOI: 10.1001/archophthalmol.2010.98
PMCID: PMC11345865

Genes

ERG
KLHL7

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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