Case Report: Rapid cataract development preceding diabetes mellitus in WFS1 spectrum disorder
<i>WFS1</i> 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 <i>WFS1</i>-related cataract development may result from the underlying condition in conjunction with or independent from <i>WFS1</i>-associated diabetes mellitus.
Authors
- Christopher Duggan (ORCID: https://orcid.org/0000-0001-8083-8193)
- Danielle Ledoux (ORCID: https://orcid.org/0000-0002-4722-2677)
- Eric D. Gaier (ORCID: https://orcid.org/0000-0002-2923-0024)
- Aaishwariya Gulani (ORCID: https://orcid.org/0000-0002-7003-3807)
Institutions
- Massachusetts Eye and Ear Infirmary (US)
- Boston Children's Hospital (US)
- Harvard University (US)
- University of Tennessee Health Science Center (US)
- Eye Care Associates (US)
- Boston Children's Museum (US)
- Massachusetts Institute of Technology (US)
Publication Details
- Journal
- Frontiers in Ophthalmology
- Published
- 2025-09-09
- DOI
- https://doi.org/10.3389/fopht.2025.1612964
- Primary Topic
- Connexins and lens biology
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Institutes of Health