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

OA was the most common and sometimes earliest WS1 manifestation. Correlations between BCVA, OCT metrics, and mutation severity score support their potential value as biomarkers and prognostic tools. Findings also support considering genetic screening for WFS1 mutations in patients presenting with otherwise unexplained OA.

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Publication Details

Journal
Journal of Neuro-Ophthalmology
Published
2026-03-23
DOI
https://doi.org/10.1097/wno.0000000000002451
Primary Topic
Endoplasmic Reticulum Stress and Disease
Type
article
Field-Weighted Citation Impact
0.00
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article

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

Bradley McNeely, Yunshuo Tang, Devin D. Mackay, Melissa W. Ko et al.
Journal of Neuro-Ophthalmology
Endoplasmic Reticulum Stress and Disease
article

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

Bradley McNeely, Yunshuo Tang, Devin D. Mackay, Melissa W. Ko, Nicholas R. Levergood, Abby F. Tang, Gregory P. Van Stavern, Fumihiko Urano
article en

Abstract

OA was the most common and sometimes earliest WS1 manifestation. Correlations between BCVA, OCT metrics, and mutation severity score support their potential value as biomarkers and prognostic tools. Findings also support considering genetic screening for WFS1 mutations in patients presenting with otherwise unexplained OA.

Journal of Neuro-Ophthalmology
Indiana University – Purdue University Indianapolis (US)
Openalex Percentile: Top 12%
Endoplasmic Reticulum Stress and Disease
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