Clinical analysis of Leber's hereditary optic neuropathy harboring mtDNA mutation at nt11778.
OBJECTIVE
To improve our diagnostic technique through the analysis of clinical features of Leber's hereditary optic neuropathy (LHON) harboring mtDNA point mutation at nt11778.


METHODS
Detection of nt11778 mutation was performed on 38 patients clinically diagnosed as LHON in our ophthalmic center from year 1998 to 2000. Circumstances of onset and family history were obtained and ophthalmoscopy, fundus fluorescein angiography, visual field and visual evoked potential were performed on all 38 patients.


RESULTS
30 In 38 patients (78.95%) harbor nt11778 mutation, including 28 male (93.33%) and 2 female (6.67%). The ratio of affected male to female is 14:1. Patients harboring nt11778 mutation display typical clinical manifestations.


CONCLUSIONS
Identification of one of the three LHON specifically associated mtDNA mutations is essential to confirm the diagnosis.
Zhang
X
X
Zhongshan Ophthalmic Center, Sun Yat-sen University of Medical Science, Guangzhou 510060, China.
Yu
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Q
Zhang
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Q
Yi
C
C
D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D005074:Evoked Potentials, Visual; D005260:Female; D005451:Fluorescein Angiography; D006801:Humans; D008297:Male; D029242:Optic Atrophy, Hereditary, Leber / Q000175:diagnosis / Q000235:genetics*; D017354:Point Mutation; D014792:Visual Acuity; D014794:Visual Fields
D004272:DNA, Mitochondrial