Case report: A Thai patient with Leber's hereditary optic neuropathy linked to mitochondrial DNA 14484 mutation.
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.
Department of Ophthalmology, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand. siwck@mahidol.ac.th
Wanicha
W
Chuenkongkaew
Patcharee
P
Lertrit
Rungnapa
R
Suphavilai
D000328:Adult; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D005500:Follow-Up Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D029242:Optic Atrophy, Hereditary, Leber / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation; D018570:Risk Assessment; D012720:Severity of Illness Index; D013785:Thailand
D004272:DNA, Mitochondrial