Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

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...

Topics

Join the communities discussing this publication.

Adolescent
Child
Membrane Proteins
Optic Atrophy
Tomography, Optical Coherence

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Wolfram Syndrome

Source

Identifiers

PMID: 39552476
DOI: 10.1080/13816810.2024.2426561

Genes

WFS1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The phenotypic spectrum of syndromic optic atrophy associated with variants in WFS1: with reclassification of p.Val606Gly as a likely benign variant.PMID 39552476Read ↗

Delineating Wolfram-like syndrome: A systematic review and discussion of the WFS1-associated disease spectrum.Semantic proximity Read ↗

WFS1 in Optic Neuropathies: Mutation Findings in Nonsyndromic Optic Atrophy and Assessment of Clinical Severity.Semantic proximity Read ↗

Natural history of patients with autosomal dominant<i>WFS1</i>pathogenic variants associated with sensorineural hearing loss and optic atrophySemantic proximity Read ↗

Natural history of 15 patients with autosomal dominant WFS1 pathogenic variants associated with sensorineural hearing loss and optic atrophySemantic proximity Read ↗

WFS1-Associated Optic Neuropathy: Genotype-Phenotype Correlations and Disease ProgressionSemantic proximity Read ↗

Wolfram Syndrome Type I Case Report and Review-Focus on Early Diagnosis and Genetic Variants.Semantic proximity Read ↗

Novel missense WFS1 variant causing autosomal dominant atypical Wolfram syndrome.Semantic proximity Read ↗

A novel WFS1 variant associated with severe diabetic retinopathy in Wolfram syndrome type 1.Semantic proximity Read ↗

Characteristics of autosomal dominant WFS1-associated optic neuropathy and its comparability to OPA1-associated autosomal dominant optic atrophy.Semantic proximity Read ↗

Genotype and Clinical Characteristics of Patients with Wolfram Syndrome and WFS1-related DisordersSemantic proximity Read ↗

Optic Atrophy Predominant WFS1 Disorder-A Case-Control Study.Semantic proximity Read ↗

Autosomal dominant optic neuropathy and sensorineual hearing loss associated with a novel mutation of WFS1.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.