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Article

Ocular phenotype of CORD5, an autosomal dominant retinal dystrophy associated with PITPNM3 p.Q626H mutation.

Acta ophthalmologica - 1 May 2013

Reinis Ainars, Golovleva Irina, Köhn Linda, Sandgren Ola

Abstract excerpt

PURPOSE: To describe in detail the phenotype of CORD5 in two families segregating a mutation c.1878G>C (p.Q626H) in the PITPNM3 gene. METHODS: The study included 35 individuals from two different families of Swedish origin, all heterozygous for a PITPNM3 p.Q626H mutation. All participants underwent ophthalmological examination including kinetic perimetry, and in selected cases adaptometry, colour vision tests and...

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Source

Identifiers

PMID: 22405330
DOI: 10.1111/j.1755-3768.2011.02381.x

Genes

PITPNM3

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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