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

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.