Anterior segment optical coherence tomography, in vivo confocal microscopy, histopathologic, and immunohistochemical findings in a patient with multiple endocrine neoplasia type 2b.

Ophthalmic Genetics
Ibadulla MirzayevZarifakhanim Gahramanli

Abstract

To describe clinical, anterior segment optical coherence tomography (AS-OCT), in vivo confocal microscopy (IVCM), histopathologic, and immunohistochemical findings in a patient with multiple endocrine neoplasia type 2b (MEN 2b) syndrome. Retrospective case report of a patient with MEN 2b. A 31-year-old male diagnosed with MEN 2b presented with eye redness, burning, and visible conjunctival mass in both eyes. The patient's past medical history revealed that he underwent bilateral adrenalectomy and total thyroidectomy. Genetic testing revealed M918T heterozygous mutation in the RET proto-oncogene. Corrected visual acuity was 20/20 in both eyes. Anterior segment examination revealed bilateral thickened lid margins, ectropion, blepharitis, conjunctival injection, temporal and inferonasal subconjunctival lesions with corneal invasion, corneal neovascularization, and marked corneal nerves. AS-OCT showed a subepithelial mixed reflective lobular mass in both eyes. Hyperreflective and noticeable thickened stromal corneal nerves were observed on IVCM in the left eye. After incisional biopsy of the right perilimbal lesions, histopathological examination revealed that lesions consisted of spindle cells in hypocellular bundles with no atypi...Continue Reading

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