title: Ocular manifestations of Niemann-Pick disease type B.
abstract: OBJECTIVE
  To investigate the ocular manifestations in Niemann-Pick disease type B (NPD-B).
  
  
  METHODS
  Observational case series.
  
  
  METHODS
  Forty-five patients (23 male and 22 female) with NPD-B from 37 unrelated families.
  
  
  METHODS
  Serial clinical evaluations were carried out over a 2- to 14-year period, including a complete physical examination, neurologic assessment, and ophthalmologic examination. Genotyping of the specific mutations in the acid sphingomyelinase (ASM) gene was performed when possible for genotype-phenotype correlations.
  
  
  METHODS
  Fundus photographs to evaluate the retina, ASM genotype, and neurologic examination findings.
  
  
  RESULTS
  Ophthalmoscopic examination revealed retinal stigmata in 15 of 45 patients, 3 with macular halos and 12 with cherry red maculae. Neurologic examinations did not reveal any evidence of neurodegeneration, and there was no consistent relationship between retinal findings and genotype.
  
  
  CONCLUSIONS
  The presence of macular halos and/or cherry red maculae is not an absolute predictor of neurodegeneration, but should prompt a thorough evaluation to determine the underlying etiology and the precise diagnosis.
authors.affiliation: Department of Human Genetics and Pediatrics, Mount Sinai School of Medicine, New York, New York 10029, USA. margaret.mcgovern@mssm.edu
authors.forename: Margaret M
authors.initials: MM
authors.lastname: McGovern
authors.forename: Melissa P
authors.initials: MP
authors.lastname: Wasserstein
authors.forename: Alan
authors.initials: A
authors.lastname: Aron
authors.forename: Robert J
authors.initials: RJ
authors.lastname: Desnick
authors.forename: Edward H
authors.initials: EH
authors.lastname: Schuchman
authors.forename: Scott E
authors.initials: SE
authors.lastname: Brodie
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D005260:Female; D005838:Genotype; D006801:Humans; D008266:Macula Lutea / Q000473:pathology*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009542:Niemann-Pick Diseases / Q000175:diagnosis* / Q000235:genetics; D010641:Phenotype; D012164:Retinal Diseases / Q000175:diagnosis* / Q000235:genetics; D013108:Sphingomyelin Phosphodiesterase / Q000235:genetics
chemical_list: D013108:Sphingomyelin Phosphodiesterase