Editor,—Dentatorubral and pallidoluysian atrophy (DRPLA) is an autosomal dominant disorder that manifests in a combination of chorea, myoclonus, seizure, ataxia, and dementia. It is caused by the unstable expansion of a CAG trinucleotide repeat coding for glutamine in the DRPLA gene.1 Several other genes with an unstable trinucleotide repeat expansion of CAG were cloned in some types of spinocerebellar degeneration (SCD). Several reports have also suggested an association between ocular changes and SCD.2 3 We report here the association of ocular changes in patients with an expanded allele of the trinucleotide repeat of the DRPLA gene.
### CASE REPORTS
A 46 year old woman (IV-2 in Fig 1) noticed gait disturbance and truncal ataxia at age 36 years. When we visited her, her general condition was very severe, and visual acuities were not examined. Pupils, ocular media, and fundus examination showed normal findings. Corneal endothelial cell density was 762 cells/mm …
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