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Article

WFS1 in Optic Neuropathies: Mutation Findings in Nonsyndromic Optic Atrophy and Assessment of Clinical Severity.

Ophthalmology - 1 Sept 2016

Grenier Joanna, Meunier Isabelle, Daien Vincent, Baudoin Corinne, Halloy François, Bocquet Béatrice, Blanchet Catherine, Delettre Cécile, Esmenjaud Etienne, Roubertie Agathe, Lenaers Guy, Hamel Christian P

Abstract excerpt

PURPOSE: To search for WFS1 mutations in patients with optic atrophy (OA) and assess visual impairment. DESIGN: Retrospective molecular genetic and clinical study. PARTICIPANTS: Patients with OA followed at a national referral center specialized in genetic sensory diseases. METHODS: Mutation screening in WFS1 was performed by Sanger sequencing. WFS1-positive patients were evaluated on visual acuity (VA) and...

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Source

Identifiers

PMID: 27395765
DOI: 10.1016/j.ophtha.2016.05.036

Genes

WFS1

Provenance

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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