Novel USH1G homozygous variant underlying USH2-like phenotype of Usher syndrome.

CONCLUSIONS: Genetic and phenotypic heterogeneity are very common in both isolated and syndromic retinal dystrophies and sensorineural hearing loss. Our findings widen the spectrum of USH allelic disorders and strength the concept that variants in genes that are classically known as underlying one specific clinical USH subtype might result in unexpected phenotypes.
PMID: 31566003 [PubMed - as supplied by publisher]

Source: European Journal of Ophthalmology - September 29, 2019 Category: Opthalmology Authors: D'Esposito F, Randazzo V, Cennamo G, Centore N, Maltese PE, Malesci R, D'Andrea L, Bertelli M, Marciano E, de Crecchio G, Pioppo A, Magli A, Cordeiro MF Tags: Eur J Ophthalmol Source Type: research