Natural history of patients with autosomal dominant WFS1 pathogenic variants associated with sensorineural hearing loss and optic atrophy
Jessica P. Roberts, Abby F. Tang, Daniela Soto Hernández, B. Carman, Liam Oiknine, CRIS M. BROWN, Stacy Hurst, Yunshuo Tang, Fumihiko Urano
This study analyzes clinical data from 11 patients with autosomal dominant WFS1 variants to describe the natural history of optic atrophy and sensorineural hearing loss, identifying a novel variant and providing insights into disease progression.
Orphanet Journal of Rare Diseases · Apr 18, 2026Peer-reviewedGenetic & Genomic Medicine