Multiple endocrine neoplasia type 2B is a rare autosomal-dominant syndrome.Recognition of ophthalmic manifestations can enable early diagnosis, reducing mortality and morbidity of associated conditions (eg, medullary thyroid carcinoma and pheochromocytoma). Mutation in the RET proto-oncogene is present in more than 95% of patients.1,2 For these patients, prophylactic thyroidectomy with radical lymph node dissection is recommended, because medullary thyroid carcinoma develops invariably.3 The following case demonstrated both the classic clinical manifestations and genetic mutation.
Chen JY, Taranath DA, Chappell AJ, McMellon AE, Craig JE. Classic Features of Multiple Endocrine Neoplasia Type 2B. Arch Ophthalmol. 2007;125(2):280. doi:10.1001/archopht.125.2.280