Article
Natural history of Usher type 2 with the c.2299delG mutation of USH2A in a large cohort.
Ophthalmic genetics - 1 Aug 2022
Meunier Audrey, Zanlonghi Xavier, Roux Anne-Françoise, Fils Jean-François, Caspers Laure, Migeotte Isabelle, Abramowicz Marc, Meunier Isabelle
Abstract excerpt
BACKGROUND: The c.2299delG mutation is prevalent and accounts for 24.5% USH2A pathogenic variants, with promising prospects for customized gene therapy. MATERIALS AND METHODS: We compared the ocular and auditory phenotypes in a retrospective cohort of 169 Usher type 2 patients, with and without the c.2299delG allele, including visual acuity, slit-lamp examination, optical coherence tomography, kinetic perimetry,...
Topics
- Extracellular Matrix Proteins
- Humans
- Mutation
- Retrospective Studies
- Usher Syndromes