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Case Reports
. 2025 Sep 9:5:1612964.
doi: 10.3389/fopht.2025.1612964. eCollection 2025.

Case Report: Rapid cataract development preceding diabetes mellitus in WFS1 spectrum disorder

Aaishwariya A Gulani  1 , Courtney Duggan  2   3 , Danielle M Ledoux #  3 , Eric D Gaier #  4   5   6
Affiliations
Case Reports

Case Report: Rapid cataract development preceding diabetes mellitus in WFS1 spectrum disorder

Aaishwariya A Gulani et al. Front Ophthalmol (Lausanne). .

Abstract

WFS1 spectrum disorder is a rare condition, characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (DIDMOAD). A 2-year-old female patient with a history of sensorineural hearing loss presented with rapid, sequential cataract development. Diabetes mellitus was not manifested at the time but developed 4 years later. While cataracts have been described in this syndrome, rapid acquisition of cataracts in the setting of mild hyperglycemia was unique considering they could not be definitively attributed to diabetes mellitus alone. This case provides real-world evidence that rapid WFS1-related cataract development may result from the underlying condition in conjunction with or independent from WFS1-associated diabetes mellitus.

Keywords: WFS1 spectrum disorder; Wolfram syndrome; cataract; diabetes mellitus; optic atrophy.

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Conflict of interest statement

EG: Luminopia, Inc. advisor, equity, patent; Stoke Therapeutics, Inc. consultant; Neurofieldz, Inc. consultant. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Figures

Figure 1
Figure 1
External photographs of exotropia and cataracts. (A) Day 0—first exam/presentation. (B) Day 5—under anesthesia just prior to cataract extraction on the right.
See this image and copyright information in PMC

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