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Article

Phenotypic characterization of a large family with RP10 autosomal-dominant retinitis pigmentosa: an Asp226Asn mutation in the IMPDH1 gene.

American journal of ophthalmology - 1 Nov 2005

Kozma Petra, Hughbanks-Wheaton Dianna K, Locke Kirsten G, Fish Garry E, Gire Anisa I, Spellicy Catherine J, Sullivan Lori S, Bowne Sara J, Daiger Stephen P, Birch David G

Abstract excerpt

PURPOSE: To evaluate the clinical features associated with the RP10 form of autosomal-dominant retinitis pigmentosa in 11 affected members of various ages from one family with a defined IMPDH1 mutation (Asp226Asn). DESIGN: Prospective, observational case series. METHODS: Visual function assessment included visual acuity, color vision, visual field, dark adaptometry, full-field electroretinography (ffERG), and...

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Source

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Identifiers

PMID: 16214101
DOI: 10.1016/j.ajo.2005.05.027
PMCID: PMC2771559

Genes

IMPDH1

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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Phenotypic characterization of a large family with RP10 autosomal-dominant retinitis pigmentosa: an Asp226Asn mutation in the IMPDH1 gene.PMID 16214101Read ↗

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