Nørby S, Rosenberg T
Københavns Universitet, Institut for Retsgenetik, Hellerup.
Ugeskr Laeger. 1990 Oct 22;152(43):3149-52.
Leber's hereditary optic neuropathy is a genetic disorder characterized by sudden bilateral loss of vision. It is transmitted exclusively through females (matroclinous inheritance) due to a mutation in mitochondrial DNA (mtDNA), most frequently a GC----AT substitution of base pair no. 11778 ('The Wallace mutation'). All children of homoplasmic female carriers inherit the disease gene. Penetrance is incomplete, but high in males. Genetic heterogeneity has been reported, as has heteroplasmy. The nature of the mutation and the degree of heteroplasmy have prognostic value, and genetic counselling as well as clinical evaluation should therefore include mtDNA analysis. Diagnostic mtDNA analysis is illustrated for three Danish patients, one of whom is without known affected relatives. All three were homoplasmic for the Wallace mutation. Neither prophylaxis nor therapy, by medication are possible as yet. Loss of vision may be prevented, or delayed, if at-risk individuals refrain from smoking and consumption of certain foodstuffs.
莱伯遗传性视神经病变是一种遗传性疾病，其特征为双眼突然失明。由于线粒体DNA（mtDNA）发生突变，该病仅通过女性遗传（母系遗传），最常见的是第11778号碱基对的GC→AT替换（“华莱士突变”）。同质性女性携带者的所有子女都会继承致病基因。外显率不完全，但在男性中较高。已经报道了遗传异质性以及异质性。突变的性质和异质性程度具有预后价值，因此遗传咨询以及临床评估应包括mtDNA分析。文中举例说明了对三名丹麦患者进行的诊断性mtDNA分析，其中一名患者没有已知的患病亲属。所有三名患者均为华莱士突变的同质性。目前既无法进行预防，也无法通过药物进行治疗。如果高危个体戒烟并避免食用某些食物，失明可能会被预防或延迟。
