title: Corneal endothelial changes as a clinical diagnostic indicator of dentatorubropallidoluysian atrophy.
abstract: OBJECTIVE
  To present a rare case of patient diagnosed with dentatorubropallidoluysian atrophy (DRPLA) accompanied by corneal endothelial cell loss.
  
  
  METHODS
  A 37-year-old man with choreoathetoid movement and cerebellar ataxia was diagnosed with DRPLA based on a DNA analysis compared with that of healthy control subjects. We examined the best corrected visual acuity, color vision, light reflex, topography, corneal thickness, fundus, fluorescein angiograpic findings, the visual field, ERG, specular microscopy as well as MRI and serologic tests.
  
  
  RESULTS
  The best corrected visual acuity was 20/20 in both eyes by Snellen chart, and the other ocular findings were within normal limits except for a significantly decreased corneal endothelial cell density, 876 cells/mm in the right eye and 941 cells/mm in the left eye.
  
  
  CONCLUSIONS
  A patient with neurodegenerative disorders such as choreathetoid movement, myoclonic seizure, cerebellar ataxia, and dementia should be examined specifically by specular microscopy because corneal endothelial cell loss is the only clinical diagnostic indicator of DRPLA.
authors.affiliation: Department of Ophthalmology, College of Medicine, Pusan National University, Pusan, Korea. jongsool@pusan.ac.kr
authors.forename: Dae Soo
authors.initials: DS
authors.lastname: Jung
authors.forename: Jae-Hyeok
authors.initials: JH
authors.lastname: Lee
authors.forename: Ji-Eun
authors.initials: JE
authors.lastname: Lee
authors.forename: Hyun-Jun
authors.initials: HJ
authors.lastname: Park
authors.forename: Han Wook
authors.initials: HW
authors.lastname: You
authors.forename: Jong Soo
authors.initials: JS
authors.lastname: Lee
mesh_terms: D000328:Adult; D000368:Aged; D002452:Cell Count; D002524:Cerebellar Ataxia / Q000175:diagnosis; D003316:Corneal Diseases / Q000175:diagnosis* / Q000235:genetics; D004252:DNA Mutational Analysis; D003704:Dementia / Q000175:diagnosis; D004728:Endothelium, Corneal / Q000473:pathology*; D004831:Epilepsies, Myoclonic / Q000175:diagnosis; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D020191:Myoclonic Epilepsies, Progressive / Q000175:diagnosis* / Q000235:genetics; D009419:Nerve Tissue Proteins / Q000235:genetics; D010375:Pedigree; D016133:Polymerase Chain Reaction; D014787:Vision Tests; D014792:Visual Acuity
chemical_list: D009419:Nerve Tissue Proteins; C095278:atrophin-1