Tarkkanen A, Haltai M, Merenmies L
J Pediatr Ophthalmol. 1977 Jul-Aug;14(4):235-41.
Ocular pathology of the infantile type of ceroid-lipofuscinosis is reported. The material comprised 10 eyes of five autopsies in which the diagnosis had been confirmed by neuropathological autopsy. The condition is clinically characterized by its age of onset from eight to 18 months, rapid psychomotor retardation, ataxia, and muscular hypotony. The patients become blind by the age of two years with optic atrophy and retinal hypopigmentation as the main ophthalmoscopic features. In the retina a complete disappearance of the visual cells, the bipolar cells and the ganglion cells was observed with marked reactive gliosis. Loss of pigment from the retinal pigment epithelium had taken place. The optic nerve showed atrophy and gliosis with complete loss of myelin sheaths. Granular deposits stainable with PAS, and Sudan black B stains were observed in the nonpigmented ciliary epithelium of the pars plana, the pigment epithelium as well as the glial cells of the optic nerve. Granular deposits were also noted in the cytoplasm of large pigmentladen macrophages in the retina. Electronmicroscopy revealed osmiophilic granular deposits in the cytoplasm of many retinal glial cells.
报告了婴儿型类蜡样脂褐质沉积症的眼部病理学情况。材料包括来自5例尸检的10只眼睛，这些病例的诊断已通过神经病理学尸检得到证实。该病症的临床特征为发病年龄在8至18个月，精神运动发育迅速迟缓、共济失调和肌张力减退。患者在两岁时失明，主要眼底镜特征为视神经萎缩和视网膜色素减退。在视网膜中，观察到视细胞、双极细胞和神经节细胞完全消失，并伴有明显的反应性胶质增生。视网膜色素上皮细胞色素脱失。视神经显示萎缩和胶质增生，髓鞘完全丧失。在睫状体扁平部的无色素睫状上皮、色素上皮以及视神经的胶质细胞中观察到可被PAS染色和苏丹黑B染色的颗粒状沉积物。在视网膜中充满色素的大巨噬细胞的细胞质中也发现了颗粒状沉积物。电子显微镜检查显示许多视网膜胶质细胞的细胞质中有嗜锇性颗粒状沉积物。
