Cairns L J, Green W R, Singer H S
Graefes Arch Clin Exp Ophthalmol. 1984;222(2):51-62. doi: 10.1007/BF02150632.
The clinical and pathological manifestations of a case of juvenile GM1 gangliosidosis are presented and the pathological findings compared with those previously reported for GM1 gangliosidosis in man and in animal models. The most striking finding in the present case was the marked degeneration of the retinal ganglion cell and nerve fiber layers. Although such extensive ganglion cell loss was not observed in any of the other cases reviewed, the presence of multimembranous inclusion bodies in retinal ganglion cells strongly suggests that the pathological process was similar in all cases. Much remains to be learned about the function of gangliosides in the healthy retina and about the pathophysiological consequences of deranged ganglioside metabolism. The many parallels, including those observed in pathological studies, between the human and animal forms of GM1 gangliosidosis allow an optimistic appraisal of the value of further research using the animal models.
本文报告了一例青少年GM1神经节苷脂贮积症的临床和病理表现，并将病理结果与先前报道的人类和动物模型中的GM1神经节苷脂贮积症进行了比较。本病例最显著的发现是视网膜神经节细胞层和神经纤维层的明显退化。虽然在回顾的其他病例中均未观察到如此广泛的神经节细胞丢失，但视网膜神经节细胞中多膜包涵体的存在强烈表明，所有病例的病理过程相似。关于神经节苷脂在健康视网膜中的功能以及神经节苷脂代谢紊乱的病理生理后果，仍有许多有待了解之处。GM1神经节苷脂贮积症的人类和动物形式之间存在许多相似之处，包括在病理研究中观察到的相似之处，这使得人们对使用动物模型进行进一步研究的价值持乐观态度。
