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Identification of novel pathogenic variants in the PHYH gene and extending the phenotypic range in Refsum disease.

Ophthalmic genetics - 1 Jun 2026

Gregory-Evans Cheryl Y, Lehman Anna, Mattman Andre, Kirby Mathew, Gregory-Evans Kevin

Abstract excerpt

PURPOSE: Two patients with a suspected inherited retinal dystrophy (IRD) were referred to a specialist ophthalmology clinic for genetic testing to determine the cause of their disease. CASE REPORT: A 50-year-old female patient (P1) presented with retinitis pigmentosa and poor vision since childhood. Molecular genetic testing in P1 revealed two novel pathogenic variants in PHYH (NM_006214.4): p.(Val93*) and...

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Identifiers

PMID: 41290216
DOI: 10.1080/13816810.2025.2591819

Genes

PHYH

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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