Optic Atrophy in Wolfram Syndrome Type 1: A Retrospective Analysis of Visual Outcomes and Biomarker…

Cohort studyJournal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society· Mar 2026

Optic Atrophy in Wolfram Syndrome Type 1: A Retrospective Analysis of Visual Outcomes and Biomarker Correlates.

Bradley J McNeely, Abby F Tang, Fumihiko Urano … Yunshuo Tang

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GlaucomaCohort studyPrognosisQ3IF 0.7

Vision loss tracks with thinner retinal ganglion cell complex in Wolfram syndrome type 1.

Optic Atrophy in Wolfram Syndrome Type 1: A Retrospective Analysis of Visual Outcomes and Biomarker Correlates.

Bradley J McNeely … Yunshuo Tang

Journal of neuro-ophthalmology · Mar 2026 · Q3 in Ophthalmology

Background

Wolfram syndrome type 1 (WS1) is a rare autosomal recessive disorder classically associated with diabetes mellitus (diabetes mellitus) and optic atrophy (optic atrophy).

Purpose

We aimed to characterize optic atrophy in WS1 and evaluate optical coherence tomography (optical coherence tomography) and genetic biomarkers as tools for disease monitoring and prognostication.

Methods

We conducted a retrospective chart review of genetically confirmed patients with WS1 seen at Washington University or Indiana University neuro-ophthalmology clinics between July 2017 and 2024.

n = 31 patients

R2 = 0.29

Results

R2 = 0.29

worse vision often paired with thinner nerve cell layer, but weakly

n = 31 patients

More results

Thirty-six patients (22 women, 14 men; median age 20 years) were identified.

Median mutation severity score was 3.5.

Vision loss occurred in 31 patients; in 3 patients it was the only major symptom, in 5 patients it preceded diabetes mellitus, and in 6 patients it occurred without diabetes mellitus.

More results

Mean and median BCVA were 20/125 and 20/80, respectively.

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Conclusion · 1 of 2

Optic atrophy was the most common and sometimes earliest WS1 manifestation. Correlations between BCVA, optical coherence tomography metrics, and mutation severity score support their potential value as biomarkers and prognostic tools.

Conclusion · 2 of 2

Findings also support considering genetic screening for WFS1 mutations in patients presenting with otherwise unexplained optic atrophy.

Optic Atrophy in Wolfram Syndrome Type 1: A Retrospective Analysis of Visual Outcomes and Biomarker Correlates.

Optic Atrophy in Wolfram Syndrome Type 1: A Retrospective Analysis of Visual Outcomes and Biomarker Correlates.

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