J Korean Ophthalmol Soc.
2004 Mar;45(3):522-527.
Corneal Endothelial Changes in Dentatorubropallidoluysian Atrophy (DRPLA)
- Affiliations
-
- 1Department of Ophthalmology, College of Medicine, Pusan National University, Busan, Korea. jongsool@pusan.ac.kr
- 2Department of Neurology, College of Medicine, Pusan National University, Busan, Korea.
Abstract
- PURPOSE
To report a patient with dentatorubropallidoluysian atrophy (DRPLA) accompanied by a corneal endothelial change. METHODS: The ophthalmic findings in a 37-year-old man with cerebellar ataxia, showing cerebellar atrophy on magnetic resonance imaging and was diagnosed with DRPLA based on DNA analysis, which revealed an expansion of the CAG repeats at the DRPLA locus, were compared with those of healthy control subjects. This study examined the best corrected visual acuity, the light reflex, the slit lamp examination, the topography, the fundus findings, the fluorescein angiography (FAG), the visual field, the electroretinography (ERG), and the specular microscopy. RESULTS: The best-corrected visual acuity was 1.0 on both eyes by the Han visual chart, and the other ocular findings were within the normal limits. The only abnormal finding was significantly lower corneal endothelial cell density (876 and 941 cells/mm2 respectively) compared to the normal level. CONCLUSIONS: Corneal endothelial cell loss is the only an important finding of DRPLA, and the corneas of DRPLA patients should be examined specifically by specular microscopy.
Keyword
- Full Text Links
-
- Actions
-
Cited
- CITED
-
- Close
- Share
-
- Similar articles
-
- A Case of Dentatorubropallidoluysian Atrophy with Corneal Endothelial Degeneration
- Dentatorubropallidoluysian Atrophy (DRPLA) With Comitant Esotropia
- A Family of Dentatorubropallidoluysian Atrophy
- Sleep Related Problems as a Nonmotor Symptom of Dentatorubropallidoluysian Atrophy
- A Case of Dentatorubropallidoluysian Atrophy with Progressive Myoclonus Epilepsy
