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Article

The phenotypic spectrum of syndromic optic atrophy associated with variants in WFS1: with reclassification of p.Val606Gly as a likely benign variant.

Ophthalmic genetics - 1 Aug 2025

Hull Sarah, Sheck Leo, Braatvedt Geoff, Mouat Frances, Jefferies Craig, Yap Patrick, Murphy Rinki, Vincent Andrea L

Abstract excerpt

INTRODUCTION: Wolfram syndrome due to bi-allelic variants in WFS1 and mono-allelic Wolfram-like syndrome have variable ocular and syndromic associations. In this report, eight patients are described. METHODS: A retrospective observational case series with detailed ophthalmic and systemic phenotyping, optical coherence tomography (OCT), and neuroimaging. Molecular investigations included gene panel and targeted...

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

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Source

Identifiers

PMID: 39552476
DOI: 10.1080/13816810.2024.2426561

Genes

WFS1

Variants

Provenance

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