Brownstein S, Meagher-Villemure K, Polomeno R C, Little J M
Arch Ophthalmol. 1978 May;96(5):864-70. doi: 10.1001/archopht.1978.03910050466015.
Globoid leukodystrophy (Krabbe's disease) was diagnosed in an infant in whom a progressive neurological disorder and optic atrophy developed. At autopsy, ultrastructural examination of the optic nerves and cerebral white matter revealed characteristic tubular inclusions in globoid-epithelioid cells. Thinning of the nerve fiber and ganglion cell layers of the retina appeared to be due to retrograde degeneration of the optic nerve related to the abnormal metabolism of myelin. We discuss the pathogenesis of the clinical and pathological ocular findings, with regard to the inherited absence of the enzyme galactocerebroside beta-galactosidase and the accumulation in the optic nerve and brain of its substrates, galactocerebroside and psychosine.
一名婴儿被诊断患有球形细胞脑白质营养不良（克拉伯病），该婴儿出现了进行性神经功能障碍和视神经萎缩。尸检时，对视神经和脑白质进行超微结构检查发现，球形上皮样细胞中有特征性的管状包涵体。视网膜神经纤维层和神经节细胞层变薄似乎是由于与髓鞘异常代谢相关的视神经逆行性变性所致。我们讨论了临床和病理眼部表现的发病机制，涉及遗传性半乳糖脑苷脂β-半乳糖苷酶缺乏及其底物半乳糖脑苷脂和Psychosine在视神经和大脑中的蓄积。
