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March 25, 2026Journal of Neuro-Ophthalmology2 citations

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

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BMBradley McNeelyATAbby F. TangFUFumihiko Urano

Key Points

  • The aim is to examine visual outcomes associated with optic atrophy in Wolfram Syndrome Type 1 and identify potential biomarkers.
  • Conducted a retrospective analysis on patients with Wolfram Syndrome Type 1.
  • Evaluated best-corrected visual acuity (BCVA) and optical coherence tomography (OCT) metrics.
  • Assessed correlations between these measures and mutation severity scores.
  • Optic atrophy was the most common and often the earliest manifestation in Wolfram Syndrome Type 1.
  • Strong correlations were found between BCVA, OCT metrics, and mutation severity scores.
  • Findings support the use of genetic screening for WFS1 mutations in patients with unexplained optic atrophy.

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.

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Cite This Study

McNeely et al. (2026) studied this question.

synapsesocial.com/papers/69c37b11b34aaaeb1a67d29ehttps://doi.org/10.1097/wno.0000000000002451
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