[The ceroid-lipofuscinoses: ocular ultrastructure and diagnosis by conjunctival biopsy (author's transl)].
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.
D000293:Adolescent; D000328:Adult; D001344:Autopsy; D001706:Biopsy; D002566:Ceroid; D002648:Child; D002675:Child, Preschool; D003228:Conjunctiva / Q000473:pathology*; D005123:Eye / Q000648:ultrastructure; D005260:Female; D006801:Humans; D008062:Lipofuscin; D008297:Male; D010641:Phenotype; D010860:Pigments, Biological; D012174:Retinitis Pigmentosa / Q000235:genetics / Q000473:pathology*
D002566:Ceroid; D008062:Lipofuscin; D010860:Pigments, Biological
Les céroïde-lipofuscinoses. Ultrastructure oculaire et diagnostic par biopsie conjonctivale.