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Article

Natural history and retinal structure in patients with Usher syndrome type 1 owing to MYO7A mutation.

Ophthalmology - 1 Feb 2014

Lenassi Eva, Saihan Zubin, Cipriani Valentina, Le Quesne Stabej Polona, Moore Anthony T, Luxon Linda M, Bitner-Glindzicz Maria, Webster Andrew R

Abstract excerpt

PURPOSE: To evaluate the phenotypic variability and natural history of ocular disease in a cohort of 28 individuals with MYO7A-related disease. Mutations in the MYO7A gene are the most common cause of Usher syndrome type 1, characterized by profound congenital deafness, vestibular arreflexia, and progressive retinal degeneration. DESIGN: Retrospective case series. PARTICIPANTS: Twenty-eight patients from 26...

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Identifiers

PMID: 24199935
DOI: 10.1016/j.ophtha.2013.09.017

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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