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Article

Clinical Findings and Molecular Genetics of USH1C-Associated Usher Syndrome.

JAMA ophthalmology - 1 Jan 2026

Aychoua Nancy, de Guimarães Thales A C, Ponnekanti Manav B, Sasidharan Sajin, Leung Sum-Ping, Ibukun Folahan Adesola, James Naomi, Berry Vanita, Mahroo Omar A, Webster Andrew R, Kalitzeos Angelos, Michaelides Michel

Abstract excerpt

Importance: Expanding insight into the phenotypic spectrum, social burden of dual sensory impairment, and progression of USH1C-associated retinopathy is essential to inform prognosis and guide emerging therapies. Objective: To characterize some genetic variants, clinical features, natural history, and social outcomes of USH1C-associated retinopathy in a patient cohort. Design, Setting, and Participants: This was...

Read the complete abstract on PubMed

Topics

Humans
Usher Syndromes
Female
Male
Adult
Adolescent

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Middle Aged

Retrospective Studies

Visual Acuity

Child

Young Adult

Tomography, Optical Coherence

Mutation

Visual Fields

Follow-Up Studies

Phenotype

DNA Mutational Analysis

Cytoskeletal Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 41296346
DOI: 10.1001/jamaophthalmol.2025.4813
PMCID: PMC12658765

Genes

USH1C

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 21 Oct 2026.

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