Article
A novel WFS1 variant associated with severe diabetic retinopathy in Wolfram syndrome type 1.
Ophthalmic genetics - 1 Jun 2023
Maamouri Rym, Hizem Syrine, Kammoun Ines, Elaribi Yasmina, Rejeb Imen, Sebai Molka, Jilani Houweyda, Rouzier Cécile, Cheour Monia, Paquis-Flucklinger Véronique, Ben Jemaa Lamia
Abstract excerpt
BACKGROUND: Wolfram syndrome type 1 is a rare neurodegenerative disorder including diabetes insipidus, diabetes mellitus, optic atrophy, and deafness, with variable additional findings. The phenotypic spectrum is very heterogeneous, with non-autoimmune juvenile-onset diabetes and optic atrophy as minimal criteria for the diagnosis. Biallelic mutations in the WFS1 gene are the causative genetic anomaly for the...
Topics
- Humans
- Diabetic Retinopathy
- Mutation
- Mutation, Missense
- Optic Atrophy
- Wolfram Syndrome