Abstract:Background
Usher Syndrome is the commonest cause of inherited blindness and deafness. The condition is clinically and genetically heterogeneous, with no current treatment. We report a case carrying novel biallelic variants in USH2A causing progressive early adolescent onset visual and hearing impairment consistent with Usher Syndrome Type IIA.
Case presentation
Our patient presented at age 13 with progressive visual field loss and hearing loss, ass… Show more
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