Diagnosis of multiple endocrine neoplasia type 2B and management of its ocular features

Ophthalmic Genet. 2018 Apr;39(2):268-270. doi: 10.1080/13816810.2017.1408849. Epub 2017 Nov 28.

Abstract

Background: To describe ocular and vascular findings in a patient with multiple endocrine neoplasia type 2B.

Materials and methods: Case report of a 31-year-old male who was referred for ocular assessment following diagnosis of a carotid artery dissection and multiple vascular anomalies.

Results: Clinical examination revealed a marfanoid habitus, myelinated corneal nerve fibers, neuromas in the perilimbal area, conjunctival hyperemia with peripheral corneal neovascularization, and posterior blepharitis. Diagnosis of multiple endocrine neoplasia type 2B was confirmed by genetic testing of the RET proto-oncogene. Genetic screening for hereditary aortic and peripheral vasculopathies failed to reveal an underlying cause for the vascular findings. We noted improvement of the ocular surface disease with topical corticosteroids and oral tetracyclines.

Conclusions: Ophthalmologists play a vital role in recognizing this rare but lethal malignancy. We report on a patient with apart from characteristic ocular findings also staphylococcal hypersensitivity and widespread systemic vasculopathy.

Keywords: MEN type 2B; myelinated corneal nerve fibers; vasculopathy.

Publication types

  • Case Reports

MeSH terms

  • Administration, Ophthalmic
  • Administration, Oral
  • Adult
  • Blepharitis / diagnosis*
  • Blepharitis / drug therapy
  • Cornea / innervation
  • Corneal Neovascularization / diagnosis*
  • Corneal Neovascularization / drug therapy
  • Eye Neoplasms / diagnosis*
  • Eye Neoplasms / drug therapy
  • Glucocorticoids / therapeutic use
  • Humans
  • Male
  • Multiple Endocrine Neoplasia Type 2b / diagnosis*
  • Multiple Endocrine Neoplasia Type 2b / drug therapy*
  • Multiple Endocrine Neoplasia Type 2b / genetics
  • Nerve Fibers, Myelinated / pathology
  • Neuroma / diagnosis*
  • Neuroma / drug therapy
  • Proto-Oncogene Mas
  • Proto-Oncogene Proteins c-ret / genetics
  • Tetracycline / therapeutic use

Substances

  • Glucocorticoids
  • MAS1 protein, human
  • Proto-Oncogene Mas
  • Proto-Oncogene Proteins c-ret
  • RET protein, human
  • Tetracycline