Corneal opacitie aociated with NTBC treatment

PURPOE: To decribe a patient with hereditary tyroinemia type I (HHT-I) treated with 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC) who developed corneal opacitie. METHOD: A 14-month-old patient wa diagnoed with HHT-I and began treatment with NTBC. Her erial ocular examination were normal until age 4 year, when he developed ocular dicomfort and wa found to have bilateral, linear, branching ubepithelial corneal opacitie. REULT: Over the next 3 year, the extent of the opacitie fluctuated, and increaed opacitie correlated with period of poor compliance with a retricted protein diet. erum tyroine level remained elevated at 238 to 602 umol/L (normal 26 to 83) throughout the duration of NTBC treatment. CONCLUION: Corneal opacitie are a potential conequence of NTBC treatment for HHT-I. The leion probably reult from elevated erum and ocular tyroine level due to inhibition of the tyroine catabolic pathway and poor dietary compliance