Article
CDH23-associated Usher syndrome: genotype-phenotype correlations.
Ophthalmic genetics - 1 Jun 2026
de Guimaraes Thales A C, Espinosa Marcos, Carlos Romo-Aguas Juan, Laich Yannik, Aychoua Nancy, Kalitzeos Angelos, Michaelides Michel
Abstract excerpt
To identify retinal genotype-phenotype correlations in CDH23-associated Usher syndrome (USH1D), review of clinical notes, and retinal imaging including fundus autofluorescence (FAF) and optical coherence tomography (OCT). Subjects were grouped according to the combination of CDH23 variants-two loss-of-function (G1), one loss-of-function, and one non-loss-of-function (G2) or two non-loss-of-function variants...
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