Typical ocular findings in a patient with multiple endocrine neoplasia type 2b syndrome
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Published on: January 17, 2018
N Eter1, D Klingmüller, W Höppner
1Department of Ophthalmology, Bonn University Medical Center, Germany. eter@uni-bonn.de
Background:
Multiple endocrine neoplasia (MEN) type 2b syndrome is accompanied by typical ocular findings; however, the disease is often only diagnosed at an advanced stage by symptoms of C-cell carcinoma or pheochromocytoma and is then fatal in most cases. Therefore, the importance of ophthalmic assessment in making the diagnosis has to be stressed.
Methods:
The history and ocular findings of a patient with MEN 2b syndrome are described, and a brief overview of the syndrome is given.
Results:
Slit-lamp examination showed extremely thickened corneal nerves as well as multiple small plexiform and nodular subconjunctival tumors. Both eyes also displayed thickened upper and lower eyelids. A molecular genetic study of the RET proto-oncogene showed a heterozygous ATG to ACG mutation in codon 918 of exon 16.
Conclusion:
Greatly thickened corneal nerves and subconjunctival tumors may be the first hint of MEN 2b. Whenever greatly thickened corneal nerves are detected, MEN 2b must be ruled out.
