Ocular manifestations of Niemann-Pick disease type B

Margaret M. McGovern, Melissa P. Wasserstein, Alan Aron, Robert J. Desnick, Edward H. Schuchman, Scott E. Brodie

Research output: Contribution to journalArticle

37 Citations (Scopus)

Abstract

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.

Original languageEnglish (US)
Pages (from-to)1424-1427
Number of pages4
JournalOphthalmology
Volume111
Issue number7
DOIs
StatePublished - Jul 2004
Externally publishedYes

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Type B Niemann-Pick Disease
Eye Manifestations
Sphingomyelin Phosphodiesterase
Neurologic Examination
Genotype
Christianity
Acids
Genetic Association Studies
Neurologic Manifestations
Nervous System
Physical Examination
Retina
Outcome Assessment (Health Care)
Mutation
Genes

ASJC Scopus subject areas

  • Ophthalmology

Cite this

McGovern, M. M., Wasserstein, M. P., Aron, A., Desnick, R. J., Schuchman, E. H., & Brodie, S. E. (2004). Ocular manifestations of Niemann-Pick disease type B. Ophthalmology, 111(7), 1424-1427. https://doi.org/10.1016/j.ophtha.2003.10.034

Ocular manifestations of Niemann-Pick disease type B. / McGovern, Margaret M.; Wasserstein, Melissa P.; Aron, Alan; Desnick, Robert J.; Schuchman, Edward H.; Brodie, Scott E.

In: Ophthalmology, Vol. 111, No. 7, 07.2004, p. 1424-1427.

Research output: Contribution to journalArticle

McGovern, MM, Wasserstein, MP, Aron, A, Desnick, RJ, Schuchman, EH & Brodie, SE 2004, 'Ocular manifestations of Niemann-Pick disease type B', Ophthalmology, vol. 111, no. 7, pp. 1424-1427. https://doi.org/10.1016/j.ophtha.2003.10.034
McGovern MM, Wasserstein MP, Aron A, Desnick RJ, Schuchman EH, Brodie SE. Ocular manifestations of Niemann-Pick disease type B. Ophthalmology. 2004 Jul;111(7):1424-1427. https://doi.org/10.1016/j.ophtha.2003.10.034
McGovern, Margaret M. ; Wasserstein, Melissa P. ; Aron, Alan ; Desnick, Robert J. ; Schuchman, Edward H. ; Brodie, Scott E. / Ocular manifestations of Niemann-Pick disease type B. In: Ophthalmology. 2004 ; Vol. 111, No. 7. pp. 1424-1427.
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