Diagnostic and predictive methods for a Niemann-Pick disease type B patient with ocular involvement

J Inherit Metab Dis. 2010 Oct;33(5):633-4. doi: 10.1007/s10545-010-9153-z. Epub 2010 Jun 29.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Diagnostic Techniques, Ophthalmological*
  • Electroretinography
  • Fluorescein Angiography
  • Humans
  • Lipid Metabolism / genetics
  • Male
  • Niemann-Pick Disease, Type B / complications*
  • Niemann-Pick Disease, Type B / enzymology
  • Niemann-Pick Disease, Type B / pathology
  • Predictive Value of Tests
  • Retina / enzymology
  • Retina / pathology*
  • Retinal Diseases / diagnosis*
  • Retinal Diseases / enzymology
  • Retinal Diseases / etiology
  • Retinal Diseases / pathology
  • Sphingomyelin Phosphodiesterase / deficiency
  • Sphingomyelin Phosphodiesterase / genetics
  • Tomography, Optical Coherence
  • Visual Acuity

Substances

  • Sphingomyelin Phosphodiesterase