Ocular manifestations of Niemann-Pick disease type B

Ophthalmology. 2004 Jul;111(7):1424-7. doi: 10.1016/j.ophtha.2003.10.034.


Purpose: To investigate the ocular manifestations in Niemann-Pick disease type B (NPD-B).

Design: Observational case series.

Participants: 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.

Main outcome measures: 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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Child
  • Child, Preschool
  • Female
  • Genotype
  • Humans
  • Macula Lutea / pathology*
  • Male
  • Middle Aged
  • Mutation
  • Niemann-Pick Diseases / diagnosis*
  • Niemann-Pick Diseases / genetics
  • Phenotype
  • Retinal Diseases / diagnosis*
  • Retinal Diseases / genetics
  • Sphingomyelin Phosphodiesterase / genetics


  • Sphingomyelin Phosphodiesterase