Jansky-Bielschowsky form of neuronal ceroid-lipofuscinosis. Ocular pathology of the Batten-Vogt syndrome.
The neuronal ceroid-lipofuscinoses (Batten-Vogt syndrome) are a group of at least four closely related entities that are characterized by the accumulation of autofluorescent lipopigments in neural, visceral, and somatic tissues. The ophthalmic pathology of this syndrome has been investigated less extensively than other tissues and organs. In this report, we present the postmortem ocular findings, including light, fluorescence, and electron microscopy, from a child with the Jansky-Bielschowsky form of this syndrome.
D002675:Child, Preschool; D005123:Eye / Q000648:ultrastructure; D005260:Female; D006801:Humans; D007498:Iris / Q000473:pathology; D009422:Nervous System Diseases / Q000473:pathology*; D010857:Pigment Epithelium of Eye / Q000473:pathology*; D010859:Pigmentation Disorders / Q000473:pathology*; D012160:Retina / Q000473:pathology; D013577:Syndrome