Detailed Clinical, Ophthalmic, and Genetic Characterization of MYO7A-Associated Usher Syndrome.

ABSTRACT:

Purpose

To analyze the clinical spectrum and natural history of MYO7A-associated Usher syndrome type I (USH1).

Methods

Patients with molecularly confirmed MYO7A-associated USH1 in a single tertiary referral center. Data was extracted from physical and electronic case notes, including imaging and electrophysiology. Genetic results were reviewed, and the detected variants were assessed. Main outcome measures were clinical findings, qualitative and quantitative analysis of retinal imaging, and electrophysiology.

Results

Eighty patients were identified and evaluated longitudinally. The mean age (±SD) of onset of symptoms was 12.0 ± 5.8 years of age, and a mean follow-up time of 16.2 years. BCVA was 0.4 ± 0.5 LogMAR at baseline, and 0.7 ± 0.8 LogMAR at the last visit for b

SUBMITTER: Romo-Aguas JC 

PROVIDER: S-EPMC12020961 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature