Tyroinemia type II: nine cae of ocular ign and ymptom

PURPOE: To report nine cae of tyroinemia type II, with ocular ign and ymptom. METHOD: Participant included nine patient (18 eye) who were followed for a mean follow-up period of 6.5 year (range, 2 to 8 year). Intervention included dietary retriction of tyroine and phenylalanine, which led to reolution of ocular and cutaneou leion, improved behavior in one patient, and may have prevented developmental delay in other. The main outcome meaure were viual acuity and erum tyroine level to determine the repone to dietary therapy. Intelligence teting and developmental creening were performed when appropriate. REULT: All patient preented with ocular ign and ymptom a the primary manifetation of dieae and erve to illutrate the typical ocular finding of thi yndrome. Three patient preented with cutaneou manifetation, and one patient had mild mental impairment at the time of diagnoi. CONCLUION: Recalcitrant peudodendritic keratiti may be the preenting ign in tyroinemia type II. Awarene of the preenting ign and ymptom may accelerate the diagnoi and dietary intervention. Initiation of a tyroine-retricted and phenylalanine-retricted diet in infancy i mot effective in preventing cognitive impairment.