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目的探讨线粒体ＤＮＡ１１７７８突变与Ｌｅｂｅｒ视神经萎缩（Ｌｅｂｅｒｓｈｅｒｅｄｉｔａｒｙｏｐｔｉｃｎｅｕｒｏｐａ－ｔｈｙ，ＬＨＯＮ）之间的关系。方法采用突变特异性引物－ＰＣＲ（ｍｕｔａｔｉｏｎｓｐｅｃｉｆｉｃｐｒｉｍｅｒＰＣＲ）及ＰＣＲ－ＲＦＬＰ（ＭａｅⅢ）检测临床可疑ＬＨＯＮ患者及有关亲属，两种方法结果均阳性者则收集其临床资料。结果１０例１１７７８突变阳性者中１例为携带者，９例为ＬＨＯＮ病人，患者中男性６例，女性３例，起病年龄１２～２５岁，双眼起病间隔０～６个月，随访１～１２年，视力为指数／眼前～０．１（除一例生育小孩后发病的患者有视力恢复），接受过视野、视诱发电位和色觉检查的患者结果均异常，而视网膜电图检查结果及全身情况多正常。结论１０例受试者的两种分子生物学检测结果都显示线粒体ＤＮＡ１１７７８突变。携带者状态和视力恢复现象的存在表明线粒体ＤＮＡ突变虽是ＬＨＯＮ的主要病因，但其他因素如内分泌失调也可影响其发病
Objective To investigate the relationship between mitochondrial DNA 11778 mutation and Leber shereditary opticneuropa-thy (LHON). Methods The clinical suspicious LHON patients and related relatives were detected by mutation-specific primers-PCR (PCR) and PCR-RFLP (MaeⅢ). The positive results of both methods were collected. Results One out of 10 11778 mutation positive carriers was carriers, and nine patients were LHON patients. There were 6 males and 3 females with a onset age of 12 to 25 years. The onset time of both eyes was 0 to 6 months. Follow-up 1 ~ 12 years, visual acuity / anterior ~ 0.1 (visual acuity recovered in a patient who developed disease after childbearing), patients who underwent visual field, visual evoked potentials, and color vision were abnormal, and electroretinography The general condition of more normal. Conclusions Both molecular biological tests in 10 subjects showed mitochondrial DNA 11778 mutation. The existence of carrier status and visual acuity restoration suggests that although mitochondrial DNA mutations are the major cause of LHON, other factors such as endocrine disorders may also affect their pathogenesis