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Article

OTX2 mutations cause autosomal dominant pattern dystrophy of the retinal pigment epithelium.

Journal of medical genetics - 1 Dec 2014

Vincent Ajoy, Forster Nicole, Maynes Jason T, Paton Tara A, Billingsley Gail, Roslin Nicole M, Ali Arfan, Sutherland Joanne, Wright Tom, Westall Carol A, Paterson Andrew D, Marshall Christian R, Héon Elise

Abstract excerpt

PURPOSE: To identify the genetic cause of autosomal-dominant pattern dystrophy (PD) of the retinal pigment epithelium (RPE) in two families. METHODS AND RESULTS: Two families with autosomal-dominant PD were identified. Eight members of family 1 (five affected) were subjected to whole-genome SNP genotyping; multipoint genome-wide linkage analysis identified 7 regions of potential linkage, and genotyping four...

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Source

Identifiers

PMID: 25293953
DOI: 10.1136/jmedgenet-2014-102620

Genes

OTX2
RPE

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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