Cerebrotendinous xanthomatosis: a treatable disease with juvenile cataracts as a presenting sign

Arch Ophthalmol. 2011 Aug;129(8):1087-8. doi: 10.1001/archophthalmol.2011.219.
No abstract available

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cataract / blood
  • Cataract / diagnosis*
  • Cataract / therapy
  • Cataract Extraction
  • Chenodeoxycholic Acid / therapeutic use
  • Child
  • Cholestanol / blood
  • Diarrhea / drug therapy
  • Diarrhea / etiology
  • Female
  • Humans
  • Lens Implantation, Intraocular
  • Male
  • Visual Acuity / physiology
  • Xanthomatosis, Cerebrotendinous / blood
  • Xanthomatosis, Cerebrotendinous / diagnosis*
  • Xanthomatosis, Cerebrotendinous / drug therapy

Substances

  • Chenodeoxycholic Acid
  • Cholestanol