Ocular manifestations in multiple endocrine neoplasia type 2b.
OBJECTIVE
To describe the clinical and laboratory findings in a patient with multiple endocrine neoplasia type 2b.


METHODS
Case report. An 8-year-old boy underwent ophthalmic examination, genetic evaluation, total thyroidectomy, and biopsy of a tongue nodule.


RESULTS
Ocular features, including previously unreported iris changes, and their probable origin are discussed. Genetic testing detected the point mutation at codon 918 within the RET protooncogene on chromosome 10, characteristic of multiple endocrine neoplasia type 2b. Histologic analysis of excised thyroid tissue disclosed medullary carcinoma. A tongue nodule proved to be neuromatous.


CONCLUSIONS
Ophthalmologists can play an important role in the recognition of multiple endocrine neoplasia type 2b, a potentially lethal condition.
Fink
A
A
Goldschleger Eye Institute, Sheba Medical Center. amfink@globalnet.co.uk
Lapidot
M
M
Spierer
A
A
D018276:Carcinoma, Medullary / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery; D002648:Child; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics; D003062:Codon; D029721:Drosophila Proteins; D005128:Eye Diseases / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007498:Iris / Q000473:pathology; D008297:Male; D018814:Multiple Endocrine Neoplasia Type 2b / Q000175:diagnosis* / Q000235:genetics; D017354:Point Mutation; D011518:Proto-Oncogene Proteins / Q000235:genetics; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics; D013964:Thyroid Neoplasms / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery; D013965:Thyroidectomy; D014060:Tongue Diseases / Q000175:diagnosis
D003062:Codon; D029721:Drosophila Proteins; D011518:Proto-Oncogene Proteins; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases; C416649:Ret protein, Drosophila