Corneal Endothelial Changes in Dentatorubropallidoluysian Atrophy (DRPLA).

Lee, Ji Eun; Park, Hyun Jun; Lee, Jong Soo; Lee, Jae Hyuk; Jung, Dae Soo

Case Report

Journal of the Korean Ophthalmological Society 2004;45(3):522-527.
Published online March 1, 2004.

Corneal Endothelial Changes in Dentatorubropallidoluysian Atrophy (DRPLA).

Ji Eun Lee, Hyun Jun Park, Jong Soo Lee, Jae Hyuk Lee, Dae Soo Jung

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.

신경변성질환인 Dentatorubropallidoluysian Atrophy (DRPLA)에서의 각막병변 1예

이지은 ( Lee Ji Eun ) , 박현준 ( Park Hyeon Jun ) , 이종수 ( Lee Jong Su ) , 이재혁 ( Lee Jae Hyeog ) , 정대수 ( Jeong Dae Su )

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.

Key Words: Corneal endothelium;Dentatorubropallidoluysian atrophy (DRPLA);Specular microscopy;Spinocerebellar degeneration (SCD)