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

MT Dotti, A Rufa, A Federico - Journal of inherited metabolic …, 2001 - Wiley Online Library
MT Dotti, A Rufa, A Federico
Journal of inherited metabolic disease, 2001Wiley Online Library
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 …
Abstract
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.
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