Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid storage disease
characterized by a broad spectrum of clinical manifestations, including bilateral juvenile
cataracts. Untreated CTX leads to progressive permanent neurologic decline and early
death. Although symptoms begin in early childhood, diagnosis and replacement therapy
with chenodeoxycholic acid is often delayed until adulthood. Frequently bilateral juvenile
cataracts present in early childhood which provides ophthalmologists an opportunity to aid …