Binder S, Sluga E
Klin Monbl Augenheilkd. 1980 Feb;176(2):344-8. doi: 10.1055/s-2008-1057460.
While the ocular myopathies were hitherto classified in various syndromes solely on the basis of symptom complexes, biochemical and electron-microscopic studies are leading to new findings in the pathogenesis of these conditions, which are probably enzymopathies. At the same time, with the aid of electron microscopy, a classification of the myopathies is attempted on the basis of the morphological changes seen in the affected cells. However, the occurrence of giant mitochondria is no longer characteristic for myopathies. An acumulation of lipid vacuoles in the cells is currently designated "sudanophilic myopathy", and is frequently found in cases suffering from a carnitine deficiency. However, it is still difficult to demonstrate the enzyme defect responsible for the disease. -- Two cases of "sudanophilic myopathy" are reported. At first, a carnitine deficiency was assumed, but this could not be proved in subsequent follow-ups; the condition was therefore probably due to another type of enzyme deficiency in these two cases.
虽然迄今为止，眼肌病仅根据症状复合体被分类到各种综合征中，但生化和电子显微镜研究正在为这些疾病的发病机制带来新的发现，这些疾病可能是酶病。同时，借助电子显微镜，试图根据受影响细胞中观察到的形态学变化对肌病进行分类。然而，巨大线粒体的出现已不再是肌病的特征。细胞中脂质空泡的积累目前被称为“嗜苏丹性肌病”，并且在患有肉碱缺乏症的病例中经常发现。然而，仍然难以证明导致该疾病的酶缺陷。——报告了两例“嗜苏丹性肌病”。起初，推测存在肉碱缺乏，但在随后的随访中无法证实；因此，这两例病例的病情可能是由于另一种类型的酶缺乏所致。
