title: Ultrastructural studies of the retina in infantile neuronal ceroid-lipofuscinosis.
abstract: A 9-year-old boy who had died of infantile neuronal ceroid-lipofuscinosis had experienced retina-derived visual failure. Ophthalmologically and morphologically, his retina was severely atrophic and scarred by a dense fibrillary gliosis while photoreceptor cells had completely disappeared, cells of the bipolar layer had decreased in number and had become atrophic beyond cytologic recognition. Retinal pigment epithelial cells had undergone either atrophy or proliferation. Disease-specific granular lipopigments had accumulated in perikarya and processes of remaining cells and were infrequently associated with melanin within huge melanolipofuscin bodies and RPE cells of sessile and migrating nature, and within cells of the atrophic retina, among them glial cells. The ubiquitous lipopigment accumulation in the retina of this patient was identical to that seen in other childhood forms of NCL and to that observed in canine NCL while the retinopathy likewise resembled that encountered in childhood NCL, and in primary human and canine retinopathia pigmentosa.
authors.affiliation: Division of Neuropathology, University of Mainz, Federal Republic of Germany.
authors.forename: H H
authors.initials: HH
authors.lastname: Goebel
authors.forename: H
authors.initials: H
authors.lastname: Klein
authors.forename: P
authors.initials: P
authors.lastname: Santavuori
authors.forename: K
authors.initials: K
authors.lastname: Sainio
mesh_terms: D002648:Child; D003594:Cytoplasmic Granules / Q000378:metabolism / Q000648:ultrastructure; D006801:Humans; D008055:Lipids; D008062:Lipofuscin / Q000378:metabolism; D008297:Male; D008543:Melanins / Q000378:metabolism; D008566:Membranes / Q000648:ultrastructure; D009472:Neuronal Ceroid-Lipofuscinoses / Q000378:metabolism / Q000473:pathology*; D010860:Pigments, Biological / Q000378:metabolism; D012160:Retina / Q000378:metabolism / Q000473:pathology / Q000648:ultrastructure*
chemical_list: D008055:Lipids; D008062:Lipofuscin; D008543:Melanins; D010860:Pigments, Biological; C051596:lipopigments