Ultrastructural studies on the retinal pigment epithelium in the neuronal ceroid-lipofuscinoses

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Abstract
In human neuronal ceroid-lipofuscinosis, the retina is affected twofold: (1) There is ubiquitous accumulation of lipopigments in various cell types of the retina that are similar to lysosomal accretion in many other lysosomal disorders. (2) There is loss of photoreceptors followed by atrophy of the remaining inner part of the retina. The retinal pigment epithelium may also be affected by showing atrophy and proliferation and lack of phagocytosed photoreceptor outer segments. Curvilinear profiles, characteristic of late-infantile NCL, may accumulate in RPE cells, either within lipopigments or combined with melanin pigment, while fingerprint profiles, typical of juvenile NCL are difficult to identify in Rpe cells of juvenile NCL. Canine NCL is an established spontaneous model for juvenile human NCL but only statement 1 not statement 2 as mentioned above, is correct for diseased English setters. The RPE in canine NCL contains phagocytosed photoreceptor cells but not disease specific lipopigments, contrary to the many other retinal cells that harbor NCL-specific lipopigments of varying ultrastructure. Instead, peculiar circular and semi-circular profiles are present in RPE cells of NCL-diseased English setters, but not in normal dogs and heterozygous carriers of canine NCL. These comparative ultrastructural studies in different clinical forms of NCL augmented by similar ones in human non-NCL-retinopathia pigmentosa and in progressive retinal atrophy of the Swiss hound, emphasize the varying role of the RPE in human and canine NCL.

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