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Article

Identification of a founder mutation in the PRPH2 gene in an isolated Pacific Island population.

Ophthalmic genetics - 1 Oct 2026

Patil Minal, Vincent Andrea L

Abstract excerpt

INTRODUCTION: To characterize the phenotypic heterogeneity associated with a probable founder variant in the PRPH2 gene, in a Cook Island cohort presenting with variable retinal phenotypes. METHODS: Individuals carrying the same novel heterozygous PRPH2 variant were identified. Clinical evaluation included best-corrected visual acuity, fundus photography and autofluorescence, optical coherence tomography,...

Read the complete abstract on PubMed

Topics

Humans
Female
Founder Effect
Male
Pedigree
Peripherins
Adult
Mutation

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Visual Acuity

Phenotype

Tomography, Optical Coherence

Middle Aged

Electroretinography

Pacific Island People

Visual Fields

DNA Mutational Analysis

Cone-Rod Dystrophies

Source

Identifiers

PMID: 41912280
DOI: 10.1080/13816810.2026.2651178

Genes

PRPH2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 24 Oct 2026.

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