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Prevalence of cerebrotendinous xanthomatosis among patients diagnosed with acquired juvenile-onset idiopathic bilateral cataracts

JAMA Nov 25, 2019

Freedman SF, Brennand C, Chiang J, et al. - In this interim analysis of the cerebrotendinous Xanthomatosis (CTX; a rare autosomal recessive disorder of lipid storage and bile acid synthesis) Prevalence Study, researchers sought to assess the prevalence of CTX in a patient population diagnosed with early-onset idiopathic bilateral cataracts. This research was performed in 26 active US sites from November 2015 to June 2017. Participants in the study were 170 patients (aged 2 to 49 years) who were diagnosed as having cataracts between ages 2 and 21 years. Symptoms reported included abnormal gait or balance, learning disability, cognitive decline, seizures, frequent bone fractures, and chronic diarrhea. According to findings, juvenile-onset idiopathic bilateral cataracts can be a significant marker that can promote early identification of CTX, a disease that, if remain untreated, can cause devastating neurological damage. In patients with idiopathic bilateral juvenile-onset cataracts, eye care clinicians, including pediatric ophthalmologists, may play a significant role in encouraging early diagnosis of CTX by ordering or recommending testing for this disease.
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