Case report: A Thai patient with Leber's hereditary optic neuropathy linked to mitochondrial DNA 14484 mutation.
نویسندگان
چکیده
A young Thai male presented with bilateral visual loss and disc pallor. The 14484 mutation responsible for Leber's hereditary optic neuropathy (LHON) was identified on blood mitochondrial analysis. His visual loss was more severe than the visual loss described in Caucasian and Japanese patients and showed no improvement. He had no other identifiable mutations related to LHON nor any associated neurological disorder. This is the first case report of LHON with the 14484 mutation in a Thai patient.
منابع مشابه
Leber's hereditary optic neuropathy--the spectrum of mitochondrial DNA mutations in Chinese patients.
PURPOSE To investigate the spectrum of mitochondrial DNA (mtDNA) mutations in Chinese patients with Leber's hereditary optic neuropathy (LHON), optic atrophy of unknown etiology, and optic neuropathy of known etiology. METHODS Twenty-seven patients from 25 LHON pedigrees, 22 patients with bilateral optic atrophy of unknown etiology, 21 patients with optic neuropathy of known etiology, and 25 ...
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عنوان ژورنال:
- The Southeast Asian journal of tropical medicine and public health
دوره 35 1 شماره
صفحات -
تاریخ انتشار 2004