Fig. 2: Clinical features in HPO terms found in 33 patients referred with a provisional clinical diagnosis of Usher syndrome.
From: Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease
Features in the orange and yellow boxes are the two main features of Usher syndrome that were used as the diagnostic criteria for Usher syndrome in this study. Types and age of onset of hearing impairment in the patients are shown as well as the type of retinal dystrophy and any unusual features found in these patients. The patients are divided by the genetic diagnosis received from the IRD NGS panel test: probable-, possible- and no genetic diagnosis.
