Severe retinal degeneration at an early age in Usher syndrome type 1B associated with homozygous splice site mutations in MYO7A gene

ConclusionsThis mutation manifested with advanced retinal degeneration at a young age. This may have implications regarding future gene therapy in Usher syndrome cases with this genotype.
Source: Saudi Journal of Ophthalmology - Category: Opthalmology Source Type: research