Mojon D S, Herbert J, Sadiq S A, Miller J R, Madonna M, Hirano M
Department of Ophthalmology, University of Bern, Switzerland.
Ophthalmologica. 1999;213(3):171-5. doi: 10.1159/000027414.
Leber's hereditary optic neuropathy (LHON) can be difficult to distinguish from optic neuritis seen in multiple sclerosis (MS). About half of the LHON patients harbor a mutation at nucleotide (nt) 11778 in the mitochondrial (mt) DNA. In addition, mutations at nt-3460 and nt-14484 have been associated with LHON. An association of LHON and MS has been suspected for decades, and, recently, the LHON nt-11778 and nt-3460 mtDNA mutations have been found in several patients with MS or MS-like disease. We attempted to determine which MS patients should be evaluated further for LHON mutations.
We screened 103 clinically definite MS patients (age range from 18 to 72 years, 27 men and 76 women) for the LHON nt-11778 and nt-3460 mtDNA mutations.
Neither mutation was identified in the patients.
Our findings confirm previous reports which found that both LHON mutations are rare in unselected MS patients. The reports to date suggest that MS patients with peripapillary teleangiectasia typical of LHON, with relatives harboring LHON or with early severe bilateral optic neuropathy, particularly if female, should be further evaluated for LHON mutations.
莱伯遗传性视神经病变（LHON）可能难以与多发性硬化症（MS）中的视神经炎相区分。约一半的LHON患者线粒体（mt）DNA的核苷酸（nt）11778处存在突变。此外，nt - 3460和nt - 14484处的突变也与LHON有关。LHON与MS之间的关联已被怀疑数十年，最近，在一些MS或类MS疾病患者中发现了LHON nt - 11778和nt - 3460 mtDNA突变。我们试图确定哪些MS患者应进一步评估是否存在LHON突变。
我们对103例临床确诊的MS患者（年龄范围为18至72岁，男性27例，女性76例）进行了LHON nt - 11778和nt - 3460 mtDNA突变的筛查。
在患者中未发现任何一种突变。
我们的研究结果证实了先前的报道，即这两种LHON突变在未经选择的MS患者中都很罕见。迄今为止的报道表明，具有典型LHON的视乳头周围毛细血管扩张、有LHON亲属或患有早期严重双侧视神经病变的MS患者，特别是女性患者，应进一步评估是否存在LHON突变。
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