Sindrome di Usher associata a CDH23: correlazioni genotipo-fenotipo.

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 (G3)-and parameters were compared. The mean age of onset (range) for patients in G1 was 8.9 (1-14), which was lower but not significantly different (p = 0.19). The mean LogMAR BCVA (range, ± SD) for G1 was 0.41 (0.2-0.9, ± 0.25), which was not significant (p = 0.1). Only one patient in G3