A Case of Dentatorubropallidoluysian Atrophy with Corneal Endothelial Degeneration

ABSTRACT

Corneal endothelial degeneration has been reported in diseases associated with CAG repeat expansion including spinocerebellar ataxia type 1 (SCA1) and dentatorubropallidoluysian atrophy (DRPLA). We report a 35-year-old man who has cerebellar ataxia, myoclonic seizure, dystonia, chorea, mental retardation, and visual disturbance. Detailed ophthalmologic examination showed marked reduction of the corneal endothelial cell density. Genetic analysis revealed the presence of a pathological CAG expansion within the DRPLA gene. We suggest that corneal endothelial degeneration might be one of the signs differentiating DRPLA from other hereditary ataxias.