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Jern Yee Chen, MBBS; Deepa A. Taranath, MBBS; Angela J. Chappell, BAS; Amy E. McMellon, MBS; Jamie E. Craig, FRANZCO

Arch Ophthalmol. 2007;125(2):280.

	Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings.

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.

A 19-year-old man was seen for an eye examination after undergoing excision of mucosal neuromas from the tongue and total thyroidectomy with radical neck dissection for medullary thyroid carcinoma. Examination revealed marfanoid body habitus, typical facies (prominent nose and lips), thickened eyelids, mild ptosis, and eversion of upper eyelids (Figure 1).⁴ Ophthalmic examination revealed . . . [Full Text of this Article]

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