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

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, associated with early onset of cataract in her 40s requiring lens extraction. Now 52 years old, latest best corrected visual acuity (BCVA) stands at Logmar Right Eye (RE) 0.8 and Left Eye (LE) 0.2, with significantly constricted visual fields bilaterally. She was registered partially sighted age 46. Clinical and molecular genetic asse

SUBMITTER: Young SL 

PROVIDER: S-EPMC8962547 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature