Leveille A S, Newell F W
Ophthalmology. 1980 Feb;87(2):99-108. doi: 10.1016/s0161-6420(80)35262-7.
External ophthalmoplegia, retinal pigmentary degeneration, and heart block constitute the Kearns-Sayre syndrome. Skeletal muscle weakness, deafness, ataxia and endocrine disturbances also may occur. We examined 15 members in two generations of a family with autosomal dominant Kearns-Sayre syndrome. Seven had external ophthalmoplegia, six had electrocardiographic abnormalities, six had limb weakness nad six patients were normal. A deltoid muscle biopsy specimen from one patient contained typical "ragged-red fibers," abnormal lipid accumulation, and mitochondria increased in size and number, containing inclusions. The study demonstrated: (1) the marked variability in genetic expression; (2) the need to examine family members to discover asymptomatic patients and to establish an otherwise unrecognized hereditary pattern; and (3) the absence of specific and consistent biochemical abnormalities.
眼外肌麻痹、视网膜色素变性和心脏传导阻滞构成了卡恩斯-塞尔综合征。还可能出现骨骼肌无力、耳聋、共济失调和内分泌紊乱。我们对一个患有常染色体显性卡恩斯-塞尔综合征家族的两代15名成员进行了检查。7人有眼外肌麻痹，6人有心电图异常，6人有肢体无力，6名患者正常。一名患者的三角肌活检标本含有典型的“破碎红纤维”、异常脂质积聚，线粒体大小和数量增加，含有内含物。该研究表明：（1）基因表达存在显著变异性；（2）需要检查家庭成员以发现无症状患者并建立未被认识的遗传模式；（3）不存在特定且一致的生化异常。
