A Familial Case Presented with Various Clinical Manifestations Caused by OPA1 Mutation

ABSTRACT

Ataxia is presented by various etiologies, including acquired, genetic and degenerative disorders. Although hereditary ataxia is suspected when typical symptom of ataxia with concurrent is identified, it is sometimes difficult to diagnose hereditary ataxia without genetic test. Clinically, next generation sequencing technology has been developed and widely used for diagnosis of hereditary disease. Hereby, we experienced cases of genetically confirmed OPA1 mutation, which are presented with various clinical manifestations including ataxic gait and decreased visual acuity.