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Article

CDH23-Associated Usher Syndrome: Clinical Features, Retinal Imaging, and Natural History.

Investigative ophthalmology & visual science - 1 Jul 2024

de Guimaraes Thales A C, Robson Anthony G, de Guimaraes Isabela M C, Laich Yannik, Aychoua Nancy, Wright Genevieve, Kalitzeos Angelos, Mahroo Omar A, Webster Andrew R, Michaelides Michel

Abstract excerpt

Purpose: The purpose of this study was to analyze the clinical spectrum and natural history of CDH23-associated Usher syndrome type ID (USH1D). Methods: Molecularly-confirmed individuals had data extracted from medical records. Retinal imaging was extracted from an in-house database. The main outcome measurements were retinal imaging and electroretinography (ERG) and clinical findings, including age of onset,...

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Identifiers

PMID: 39017633
DOI: 10.1167/iovs.65.8.27
PMCID: PMC11262472

Genes

CDH23
ERG

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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