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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.<\/jats:p>","DOI":"10.1023\/a:1012981019336","type":"journal-article","created":{"date-parts":[[2002,12,23]],"date-time":"2002-12-23T15:14:19Z","timestamp":1040656459000},"page":"696-706","source":"Crossref","is-referenced-by-count":53,"title":["Cerebrotendinous xanthomatosis: Heterogeneity of clinical phenotype with evidence of previously undescribed ophthalmological findings"],"prefix":"10.1002","volume":"24","author":[{"given":"M. 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