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

Investigative ophthalmology & visual science - 1 Apr 2025

Romo-Aguas Juan C, de Guimarães Thales A C, Kalitzeos Angelos, Aychoua Nancy, Tsika Chrysanthi, Robson Anthony G, Fujinami-Yokokawa Yu, Fujinami Kaoru, Mahroo Omar A, Webster Andrew R, Michaelides Michel

Abstract excerpt

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...

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Identifiers

PMID: 40257781
DOI: 10.1167/iovs.66.4.60
PMCID: PMC12020961

Genes

MYO7A

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