Ocular pathology in infantile type of neuronal ceroid-lipofuscinosis.

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.