Cornea · 2004
Corneal endothelial changes as a clinical diagnostic indicator of dentatorubropallidoluysian atrophy.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Jung Dae Soo, Lee Jae-Hyeok, Lee Ji-Eun, Park Hyun-Jun, You Han Wook, Lee Jong Soo
Аннотация
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.
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.