Ontology highlight
ABSTRACT:
SUBMITTER: Sanjurjo-Soriano C
PROVIDER: S-EPMC6938853 | biostudies-literature | 2020 Jun
REPOSITORIES: biostudies-literature
Sanjurjo-Soriano Carla C Erkilic Nejla N Baux David D Mamaeva Daria D Hamel Christian P CP Meunier Isabelle I Roux Anne-Françoise AF Kalatzis Vasiliki V
Molecular therapy. Methods & clinical development 20191127
Inherited retinal dystrophies (IRDs) are characterized by progressive photoreceptor degeneration and vision loss. Usher syndrome (USH) is a syndromic IRD characterized by retinitis pigmentosa (RP) and hearing loss. USH is clinically and genetically heterogeneous, and the most prevalent causative gene is <i>USH2A</i>. <i>USH2A</i> mutations also account for a large number of isolated autosomal recessive RP (arRP) cases. This high prevalence is due to two recurrent <i>USH2A</i> mutations, c.2276G> ...[more]