Cerebrotendinous xanthomatosis: heterogeneity of clinical phenotype with evidence of previously undescribed ophthalmological findings

J Inherit Metab Dis. 2001 Dec;24(7):696-706. doi: 10.1023/a:1012981019336.


Cerebrontendinous xanthomatosis (CTX) is a rare autosomal recessive neurometabolic disease involving lipid metabolism. The classical phenotype is characterized by neurological dysfunction, tendon xanthomas and juvenile cataracts. Other ophthalmological findings have occasionally been reported. To gain more insight into the type and frequency of ophthalmological alterations in this multisystem metabolic disorder, we examined 13 CTX patients. Besides cataracts, found in all cases, the second most frequent ocular abnormality was paleness of the optic disk, which was found in 6 patients and was probably previously underestimated. Signs of premature retinal senescence were also observed. We discuss the possible relation between these ocular manifestations and the metabolic defect.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Cataract / complications
  • Evoked Potentials, Visual
  • Eye Diseases / complications*
  • Female
  • Fluorescein Angiography
  • Humans
  • Intraocular Pressure
  • Male
  • Middle Aged
  • Ophthalmoscopy
  • Optic Disk
  • Optic Nerve Diseases / complications
  • Phenotype
  • Retinal Diseases / complications
  • Xanthomatosis, Cerebrotendinous / complications*