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

JAMA Ophthalmology Sep 28, 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 assessed the prevalence of CTX in a patient population diagnosed with early-onset idiopathic bilateral cataracts. This investigation was carried out in 26 active US sites from November 2015 to June 2017. The study sample consisted of 170 patients (aged 2 to 49 years) who were diagnosed as having cataracts between ages 2 and 21 years. Findings suggested that 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. Symptoms reported included abnormal gait or balance, learning disability, cognitive decline, seizures, frequent bone fractures, and chronic diarrhea. 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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