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

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.

Ocular Flutter in Hyperosmolar Hyperglycemic State during Treatment of Malignant Cerebral Edema

Ocular flutter (OF) is a rare eye movement disorder with horizontal saccadic oscillations without inter-saccadic intervals. The OF can occur in various clinical settings. A 83-year-old female showed the OF in hyperosmolar hyperglycemic state (HHS) following malignant cerebral infarction. The pathophysiology of the OF is still unclear, but this case provides a new information that the OF can occur in the context of toxic-metabolic state such as HHS.