Ocular manifestations in multiple endocrine neoplasia type 2b

Abstract PURPOSE: To describe the clinical and laboratory findings in a patient with multiple endocrine neoplasia type 2b. METHOD: Case report. An 8-year-old boy underwent ophthalmic examination, genetic evaluation, total thyroidectomy, and biopsy of a tongue nodule. RESULTS: Ocular features, including previously unreported iris changes, and their probable origin are discussed. Genetic testing detected the point mutation at codon 918 within the RET proto-oncogene on chromosome 10, characteristic of multiple endocrine neoplasia type 2b. Histologic analysis of excised thyroid tissue disclosed medullary carcinoma. A tongue nodule proved to be neuromatous. CONCLUSION: Ophthalmologists can play an important role in the recognition of multiple endocrine neoplasia type 2b, a potentially lethal condition.