Thickened corneal nerves in multiple endocrine neoplasia type IIb

Abstract

Thickened corneal nerves are a hallmark of multiple endocrine neoplasia type IIb, a genetic syndrome characterized by medullary carcinoma of the thyroid, pheochromocytomas, and a distinctive phenotype. Both types of neoplasm may be lethal, but recognition of the ocular and non-ocular stigmata can lead to early diagnosis and successful treatment. Here, a presumptive case of multiple endocrine neoplasia type IIb is presented with background information concerning the phenotype, ocular manifestations, inheritance, diagnosis and management of the syndrome.