Corneal endothelial changes as a clinical diagnostic indicator of dentatorubropallidoluysian atrophy.
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.
Jung
Dae Soo
DS
Department of Ophthalmology, College of Medicine, Pusan National University, Pusan, Korea. jongsool@pusan.ac.kr
Lee
Jae-Hyeok
JH
Lee
Ji-Eun
JE
Park
Hyun-Jun
HJ
You
Han Wook
HW
Lee
Jong Soo
JS
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
D009419:Nerve Tissue Proteins; C095278:atrophin-1