Jung Dae Soo, Lee Jae-Hyeok, Lee Ji-Eun, Park Hyun-Jun, You Han Wook, Lee Jong Soo
Department of Ophthalmology, College of Medicine, Pusan National University, Pusan, Korea.
Cornea. 2004 Mar;23(2):210-4. doi: 10.1097/00003226-200403000-00018.
To present a rare case of patient diagnosed with dentatorubropallidoluysian atrophy (DRPLA) accompanied by corneal endothelial cell loss.
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.
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.
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.
报告一例罕见的被诊断为齿状核红核苍白球路易体萎缩症（DRPLA）并伴有角膜内皮细胞丢失的患者。
一名患有舞蹈样手足徐动症和小脑共济失调的37岁男性，通过与健康对照者的DNA分析对比，被诊断为DRPLA。我们检查了最佳矫正视力、色觉、光反射、地形图、角膜厚度、眼底、荧光素血管造影结果、视野、视网膜电图、镜面显微镜检查以及磁共振成像和血清学检查。
通过斯内伦视力表测量，双眼最佳矫正视力均为20/20，除角膜内皮细胞密度显著降低外，其他眼部检查结果均在正常范围内，右眼为876个细胞/mm，左眼为941个细胞/mm。
对于患有舞蹈样手足徐动症、肌阵挛性癫痫、小脑共济失调和痴呆等神经退行性疾病的患者，应通过镜面显微镜进行专门检查，因为角膜内皮细胞丢失是DRPLA唯一的临床诊断指标。
