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
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Copyright © the editorial department of Chinese Journal of Ocular Fundus Diseases of West China Medical Publisher. All rights reserved
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- 1. Balayre S, Gicquel JJ, Mercie M, et al. Childhood Leber hereditary optic neuropathy:a case of a 6-year-old girl with loss of vision[J]. Fr Ophtalmol,2003, 26: 1063-1066.
- 2. 马云霞,周永安,张景萍,等. Leber遗传性视神经病变线粒体DNA三个原发性突变位点的研究[J]. 中华医学遗传学杂志, 2012, 29:519-523.
- 3. 张铭连,石慧君,常永业,等. Leber遗传性视神经病变患者线粒体DNA检测分析[J].中华眼底病杂志,2006,22:132-133.
- 4. 韦企平,孙艳红,周翔天,等. Leber遗传性视神经病变临床研究[J]. 中华眼科杂志,2012,48:1065-1068.
- 5. Kanski JJ. Neuro-ophthalmology[M]//Kanski JJ.Clinical Ophthalmology.4th ed.Oxford:Butterworth-Heinemann,2000:596-597.
- 6. Ostra RJ,Bolhuis PA,Wijburg FA,et al.Leber 7S Hereditaryoptic neuropathy:correlations between mitochondrial and Visual outcome[J].J Med Genet,1994, 31:280-286.
- 7. Hwang JM,Lee JJ,Chang BL,et al.Visual prognosis of Leber's hereditary optic neuropathy with 14484/ND6 mutation in Koreans[J].Neuro Ophthalmol,2000,3:421-426.
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