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Autosomal Dominant Retinal Dystrophies Caused by a Founder Splice Site Mutation, c.828+3A>T, in PRPH2 and Protein Haplotypes in trans as Modifiers.

Investigative ophthalmology & visual science - 1 Feb 2016

Shankar Suma P, Hughbanks-Wheaton Dianna K, Birch David G, Sullivan Lori S, Conneely Karen N, Bowne Sara J, Stone Edwin M, Daiger Stephen P

Abstract excerpt

PURPOSE: We determined the phenotypic variation, disease progression, and potential modifiers of autosomal dominant retinal dystrophies caused by a splice site founder mutation, c.828+3A>T, in the PRPH2 gene. METHODS: A total of 62 individuals (19 families) harboring the PRPH2 c.828+3A>T mutation, had phenotype analysis by fundus appearance, electrophysiology, and visual fields. The PRPH2 haplotypes in trans were...

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Identifiers

PMID: 26842753
DOI: 10.1167/iovs.15-16965
PMCID: PMC4736744

Genes

PRPH2

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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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