title: Ophthalmologic manifestations of type B Niemann-Pick diseases.
abstract: Type B Niemann-Pick Disease (NPB) is a rare lysosomal storage disease resulting from diminished activity or deficiency of sphingomyelinase and is characterized by multi-system involvement with visceromegaly. Rare ocular involvement (the Macula Halo Syndrome) has been reported. Eight patients (ages 4-36) with NPB underwent complete ophthalmologic evaluations. All patients had periorbital fullness, a hitherto unreported clinical feature. Two patients had a classic Macula Halo Syndrome. One patient developed peri-macular granular deposits forming an incomplete Macula Halo over 5 years. Another patient had macular granular deposits and developed deterioration of central vision and abnormal visual evoked potentials. Ophthalmologic involvement in NPB is more common than previously described. Complete ophthalmologic evaluation is recommended in all patients suspected to have NPB.
authors: Developmental and Metabolic Neurology Branch, National Institute of Neurological Diseases and Stroke, National Institutes of Health, Bethesda, Maryland 20892.
authors: M R
authors: MR
authors: Filling-Katz
authors: J K
authors: JK
authors: Fink
authors: M B
authors: MB
authors: Gorin
authors: R
authors: R
authors: Caruso
authors: J B
authors: JB
authors: Carl
authors: E J
authors: EJ
authors: Fitzgibbon
authors: N W
authors: NW
authors: Barton
authors: N N
authors: NN
authors: Katz
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004487:Edema / Q000175:diagnosis*; D005260:Female; D005654:Fundus Oculi; D006801:Humans; D008266:Macula Lutea / Q000473:pathology*; D008297:Male; D009542:Niemann-Pick Diseases / Q000175:diagnosis*; D009916:Orbital Diseases / Q000175:diagnosis*; D012164:Retinal Diseases / Q000175:diagnosis*