Typical ocular findings in a patient with multiple endocrine neoplasia type 2b syndrome.
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.


CONCLUSIONS
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.
Eter
N
N
Department of Ophthalmology, Bonn University Medical Center, Germany. eter@uni-bonn.de
Klingmüller
D
D
Höppner
W
W
Spitznas
M
M
D000310:Adrenal Gland Neoplasms / Q000473:pathology / Q000601:surgery; D000315:Adrenalectomy; D000328:Adult; D018276:Carcinoma, Medullary / Q000473:pathology / Q000601:surgery; D003230:Conjunctival Neoplasms / Q000175:diagnosis*; D003315:Cornea / Q000294:innervation* / Q000473:pathology; D003316:Corneal Diseases / Q000175:diagnosis*; D003389:Cranial Nerve Diseases / Q000175:diagnosis*; D004252:DNA Mutational Analysis; D029721:Drosophila Proteins; D006801:Humans; D008297:Male; D018814:Multiple Endocrine Neoplasia Type 2b / Q000175:diagnosis* / Q000235:genetics; D009882:Ophthalmic Nerve / Q000473:pathology*; D010673:Pheochromocytoma / Q000473:pathology / Q000601:surgery; D017354:Point Mutation; D000090063:Proto-Oncogene Mas; D011518:Proto-Oncogene Proteins / Q000235:genetics; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics; D013577:Syndrome; D013964:Thyroid Neoplasms / Q000473:pathology / Q000601:surgery; D013965:Thyroidectomy
D029721:Drosophila Proteins; C000715470:MAS1 protein, human; D000090063:Proto-Oncogene Mas; D011518:Proto-Oncogene Proteins; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases; C416649:Ret protein, Drosophila