4.5 Article

Prospective cholestanol screening of cerebrotendinous xanthomatosis among patients with juvenile-onset unexplained bilateral cataracts

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Prevalence of cerebrotendinous xanthomatosis in cases with idiopathic bilateral juvenile cataract in ophthalmology clinics in Turkey

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Summary: The prevalence of cerebrotendinous xanthomatosis (CTX) in patients with idiopathic bilateral juvenile cataract in Turkey was found to be 1.55%. There was no significant difference in cholestanol levels and genetic test results between patients with high and low Mignarri scores. Screening using the Mignarri suspicion index and cholestanol blood levels can help identify suspected cases of CTX.

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