[The ceroid-lipofuscinoses: ocular ultrastructure and diagnosis by conjunctival biopsy (author's transl)].

Abstract

Histological studies of the eyes of three children affected with ceroid-lipofuscinosis show severe retinal destruction and generalized cellular overloading with ceroid-lipofuscin pigments. Conjunctival biopsies in eight patients distributed among the four different classical phenotypes of the disease demonstrate the diagnostic value of this simple and safe procedure.