Multiple endocrine neoplasia 2B with glaucoma associated with codon 918 mutation of the RET proto-oncogene.

PURPOSE: We report the first case of a 35-year-old Japanese man with multiple endocrine neoplasia (MEN) 2B de novo to be associated with primary open angle glaucoma.

METHODS

DNA was extracted from the patient's circulating leukocytes, specimens of the resected cervical lymph nodes, the neuroma of the eyelid, and of the conjunctival epithelium. Mutation was assayed by PCR/restriction enzyme and direct sequencing.

RESULTS

The glaucoma and MEN 2B were diagnosed at the same time, when the patient was 16 years old. The glaucoma was controlled by medical treatment. The codon 918 mutation (met918thr) in exon 16 of the RET proto-oncogene associated with MEN 2B was identified in all these tissues.

CONCLUSION

This patient was found to have the germline mutation at codon 918 (met918thr) in the RET proto-oncogene. The association between the RET proto-oncogene and glaucoma remains unclear, since glaucoma is a rare manifestation of MEN 2B.