Journal of Inherited Metabolic Disease

, Volume 24, Issue 7, pp 696–706 | Cite as

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

  • M. T. Dotti
  • A. Rufa
  • A. Federico


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.


Lipid Internal Medicine Lipid Metabolism Cataract Metabolic Disorder 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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Copyright information

© Kluwer Academic Publishers 2001

Authors and Affiliations

  • M. T. Dotti
    • 1
  • A. Rufa
    • 1
  • A. Federico
    • 1
  1. 1.Unit of Neurometabolic Diseases and Research Center for Diagnosis, Prevention and Therapy of NeurohandicapUniversity of SienaItaly

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