Ultrastructure of the Retina in Canine Neuronal Ceroid Lipofuscinosis

Abstract

Electron microscopic studies on the retinae of 3 English setters, homozygous for the trait of canine neuronal ceroid lipofuscinosis (NCL), revealed preservation of photoreceptors early and late in the course of the disease. This is in sharp contrast to the severe neuroepithelial degeneration in human NCL, for which canine NCL is considered a spontaneous animal model. Ubiquitous accretion of NCL-specific lipopigments was present in all cell types of the retina, suggesting that NCL-specific lipopigment accumulation in photoreceptors per se is not lethal to these cells. The ultrastructure of lipopigments comprised curvilinear, fingerprint, lamellar, and complex patterns. Retinae of heterozygotes exhibited occasional regular lipofuscin granules.

Disease-specific electrophysiological findings in adult ceroid-lipofuscinosis (Kufs disease)

“…This finding is consistent with the pigment epithelium pathology suggested by the c-wave records published by Nilsson et al (1983) in the dog model and with the associated histopathological results from Neville et al (1980) and Goebel et al (1979Goebel et al ( , 1982. This finding is consistent with the pigment epithelium pathology suggested by the c-wave records published by Nilsson et al (1983) in the dog model and with the associated histopathological results from Neville et al (1980) and Goebel et al (1979Goebel et al ( , 1982.…”

Retina in various animal models of neuronal ceroid‐lipofuscinosis

“…In regard to adult human NCL, to be distinguished from protracted juvenile human NCL, which may entail only blindness [Goebel et al, 19761 and pigmentary retinal degeneration, functional impairment and pathology of the retina have not been reliably elucidated [Berkovic et al, 19881. Accumulation of disease-specific lipopigments in retinal ganglion cells has been documented in adult human NCL, but retinal atrophy has not been confirmed [Martin et al, 19871 while the nosological classification has been questioned where retinal atrophy had been encountered [Ikeda et al, 1984;Martin et al, 19871. It is still controversial, whether the 2 retinal processes, i.e., lipopigment accretion and retinal atrophy, in childhood NCL are related or even interdependent. Our studies on retinal specimens of NCL-affected animal species [Goebel et al, 1979;Dahme, 1985, 1986;Goebel and Dopfmer, 19901 cast doubt on such a pathogenetic interdependence between disease-specific lipopigments and atrophy in retinae of NCL-affected English Setters, Dalmatian dogs, and South Hampshire sheep.…”

Influence of N-Acetylhomocysteine Thiolactone on Cultured Retinal Cells in Canine Neuronal Lipofuscinosis

“…In vivo studies carried out on retinae of 7-8 and 20-month-old English setters afflicted with the same desease also revealed that all of the cells examined were filled with NCL-specific pigments [Goebel et al, 1979]. A similar ubiquitous distribution of this lipopigment was seen in other tissues of these animals [Koppang, 1973/74], Electron microscopy of the NCL lipopig ment bodies in culture mainly revealed large complex bodies, composed of dark and light areas with membraneous or 'fingerprint'-like structures.…”

“…This is in sharp contrast to the severe neuroepithelial degeneration in human NCL. and for this reason canine NCL is considered a spontaneous animal model [Koppang, 1970[Koppang, , 1973Goebel et al, 1974Goebel et al, , 1979. Thus, with the exception of photoreceptors, a unanimous acquisition of NCL-specific lipopigments can be found in all other cell types of the canine NCL retina [Goebel et al, 1979).…”