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Photo Essay
Feburary 2007

Classic Features of Multiple Endocrine Neoplasia Type 2B

Arch Ophthalmol. 2007;125(2):280. doi:10.1001/archopht.125.2.280

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.

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