Ocular manifestations as diagnostic clues in multiple endocrine neoplasia type 2B: A case-based approach

Multiple endocrine neoplasia (MEN) comprises a group of inherited disorders affecting multiple endocrine glands, classified into MEN1, MEN2A, MEN2B, and MEN3 based on the pattern of glandular involvement. MEN2B is the rarest subtype, with an estimated prevalence of 1 in 600,000, and is uniquely associated with distinct ocular and systemic manifestations. We report a case of a young male who presented with progressive ocular symptoms, including eyelid ectropion, conjunctival neuromas, and prominent corneal nerves. These findings, in conjunction with a prior history of medullary thyroid carcinoma (MTC), led to the diagnosis of MEN2B. This case underscores the critical role of ophthalmologic signs in raising suspicion for MEN2B and highlights the need for multidisciplinary collaboration and timely referral for systemic evaluation in patients presenting with syndromic ocular features.