ChangYongye 1 , XieShipeng 1 , WangHao 1 , 石慧君 1 , 管敏鑫 2 , 张铭连 1
  • 1. Eye Hospital of Hebei Province, Province Key Laboratory of Ophthalmology in Hebei, Xingtai 054001, China;
  • 2. ;
张铭连, Email: zhmlyk@sohu.com
Optic atrophy, hereditary, Leber; DNA, mitochondrial/analysis; Mutation/genetics
10.3760/cma.j.issn.1005-1015.2014.03.011
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Objective To observe the clinical features of patients over 30 years old with Leber hereditary optic neuropathy (LHON). Methods Nine male LHON patients (18 eyes) were enrolled in this study. The patients aged from 34 to 56 years old, with an average age of (45.22±6.91) years. The course of the disease ranged from 7 days to 21 months, with a mean course of 5 months. Visual acuity, slit lamp microscope, chromoptometry, direct ophthalmoscope and fundus photography were measured for all patients, visual field examined for 6 patients (11 eyes). Mitochondrial DNA mutation was analyzed. The visual acuity was followed-up for 12 months. Results Seven of the 9 patients (77.78%) had family history. Five patients (55.56%) had both eyes involved simultaneously, and 4 patients (44.44%) had the eyes involved at different time. Three patients (33.33%) had sudden visual loss, and 6 patients (66.67%) had gradual visual loss. The visual acuity was light perception in 1 eye (5.55%), finger counting in 3 eyes (16.67%), 0.01-0.1 in 7 eyes (38.89%), 0.12-0.3 in 3 eyes (16.67%), equal or greater than 0.4 in 4 eyes (22.22%). Sixteen eyes (88.88%) had normal light reflex, 1 eye (5.55%) had no light reflex, and 1 eye (5.55%) had relative afferent papillary defect. Eight eyes (44.44%) had normal optic disk, 3 eyes (16.67%) had blurred optic disc border and disc telangiectasia, 7 eyes (38.89%) had pale disc and clear boundary. Among 11 eyes underwent visual field examination, 9 eyes (81.82%) had central or paracentral scotoma and 2 eyes (18.18%) had visual field narrowing. Among 9 patients, there were 7 patients (77.78%) with G11778A mutation, 1 patient (11.11%) with G11696A mutation, and 1 patient (11.11%) with T14484C mutation. In the last follow-up, the visual acuity was light perception in 1 eye (5.55%), finger counting in 4 eyes (22.22%), 0.01-0.1 in 6 eyes (33.33%), 0.12-0.3 in 3 eyes (16.67%), equal or greater than 0.4 in 4 eyes (22.22%).The visual acuity was improved in 9 eyes (50.00%), stable in 7 eyes(38.89%), and decreased in 2 eyes (11.11%). Conclusion LHON patients (older than 30 years) are more common in men, mostly with normal light reflex, central or paracentral scotoma and G11778A mutation.

Citation： ChangYongye, XieShipeng, WangHao. Clinical features of patients over 30 years old with Leber hereditary optic neuropathy. Chinese Journal of Ocular Fundus Diseases, 2014, 30(3): 270-273. doi: 10.3760/cma.j.issn.1005-1015.2014.03.011 Copy

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