Case report of optic atrophy in Dentatorubropallidoluysian Atrophy (DRPLA)

Michael R. Silver, Kapil D. Sethi, Shyamal H. Mehta, Fenwick T. Nichols, John C. Morgan

Research output: Contribution to journalArticlepeer-review

5 Scopus citations


Background: Dentatorubropallidoluysian atrophy (DRPLA) is a rare autosomal dominant neurodegenerative disease that is associated with numerous movement disorders. Ocular problems also occur with DRPLA with reports of corneal endothelial degeneration in some patients living with the disease. We report a new visual problem associated with DRPLA, optic atrophy. Case presentation: A 47 year-old man presented complaining of progressive visual loss associated with optic atrophy on ophthalmological evaluation. He gradually developed a progressive ataxia with dystonia. Brain MRI revealed a diffuse leukoencephalopathy. Genetic analysis revealed 62 CAG repeats in one allele of the DRPLA gene and he was diagnosed with DRPLA. Conclusion: Optic atrophy should be included in the clinical spectrum of DRPLA.

Original languageEnglish (US)
Article number260
JournalBMC neurology
Issue number1
StatePublished - Dec 18 2015


  • African American
  • Ataxia
  • Dentatorubropallidoluysian Atrophy (DRPLA)
  • Dystonia
  • Optic atrophy

ASJC Scopus subject areas

  • Clinical Neurology


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