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Article

Novel biallelic USH2A variants in a patient with usher syndrome type IIA- a case report.

BMC ophthalmology - 26 Mar 2022

Young Su Ling, Stanton Chloe M, Livesey Benjamin J, Marsh Joseph A, Cackett Peter D

Abstract excerpt

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...

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Identifiers

PMID: 35346118
DOI: 10.1186/s12886-022-02353-7
PMCID: PMC8962547

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