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Article

Phenotypic characterization of 3 families with autosomal dominant retinitis pigmentosa due to mutations in KLHL7.

Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Nov 2011

Wen Yuquan, Locke Kirsten G, Klein Martin, Bowne Sara J, Sullivan Lori S, Ray Joseph W, Daiger Stephen P, Birch David G, Hughbanks-Wheaton Dianna K

Abstract excerpt

OBJECTIVE: To characterize the visual phenotype caused by mutations in the BTB-Kelch protein, KLHL7, responsible for the RP42 form of autosomal dominant retinitis pigmentosa (RP). METHODS: Comprehensive ophthalmic testing included visual acuity, static visual field, kinetic visual field, dark adaptometry, full-field electroretinography, spectral-domain optical coherence tomography, and fundus photography....

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Source

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Identifiers

PMID: 22084217
DOI: 10.1001/archophthalmol.2011.307
PMCID: PMC4106140

Genes

KLHL7

Variants

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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