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Article

Autosomal dominant pericentral retinal dystrophy caused by a novel missense mutation in the TOPORS gene.

Acta ophthalmologica - 1 May 2010

Selmer Kaja Kristine, Grøndahl Jan, Riise Ruth, Brandal Kristin, Braaten Oivind, Bragadottir Ragnheidur, Undlien Dag Erik

Abstract excerpt

PURPOSE: This study aimed to identify the genetic cause of autosomal dominant pericentral retinal dystrophy (adPRD) in a large Norwegian family with 35 affected members. METHODS: The family was characterized by clinical ophthalmological examination along with fundus photography, dark adaptometry and electroretinography. We performed a genome-wide linkage analysis followed by sequencing of a candidate gene to...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 19183411
DOI: 10.1111/j.1755-3768.2008.01465.x

Genes

TOPORS

Variants

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.

Related research

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Autosomal dominant pericentral retinal dystrophy caused by a novel missense mutation in the TOPORS gene.PMID 19183411Read ↗

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A novel mutation in the dominantly inherited TOPORS gene supports haploinsufficiency as the mechanism of retinitis pigmentosa.Semantic proximity Read ↗

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