Ocular manifetation in multiple endocrine neoplaia type 2b

PURPOE: To decribe the clinical and laboratory finding in a patient with multiple endocrine neoplaia type 2b. METHOD: Cae report. An 8-year-old boy underwent ophthalmic examination, genetic evaluation, total thyroidectomy, and biopy of a tongue nodule. REULT: Ocular feature, including previouly unreported iri change, and their probable origin are dicued. Genetic teting detected the point mutation at codon 918 within the RET proto-oncogene on chromoome 10, characteritic of multiple endocrine neoplaia type 2b. Hitologic analyi of excied thyroid tiue dicloed medullary carcinoma. A tongue nodule proved to be neuromatou. CONCLUION: Ophthalmologit can play an important role in the recognition of multiple endocrine neoplaia type 2b, a potentially lethal condition.