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Ocular manifestations in multiple endocrine neoplasia type 2b
1Goldschleger Eye Institute, Sheba Medical Center. amfink@globalnet.co.uk
American Journal of Ophthalmology
|September 4, 1998
Summary
Multiple endocrine neoplasia type 2b (MEN2B) was identified in an 8-year-old boy through genetic testing and clinical evaluation. This rare genetic disorder involves medullary thyroid cancer and neuromas, highlighting the importance of early diagnosis.
Area of Science:
- Endocrinology
- Genetics
- Ophthalmology
Background:
- Multiple Endocrine Neoplasia type 2B (MEN2B) is a rare genetic disorder.
- Early recognition is crucial for managing this potentially lethal condition.
Observation:
- An 8-year-old boy presented with clinical and laboratory findings suggestive of MEN2B.
- Ophthalmic examination revealed previously unreported iris changes.
Findings:
- Genetic testing confirmed a characteristic RET protooncogene mutation (codon 918) associated with MEN2B.
- Histological analysis revealed medullary thyroid carcinoma and a tongue nodule confirmed as a neuroma.
Implications:
- Ophthalmologists can play a key role in the early detection of MEN2B.
- Prompt diagnosis and management are essential for improving patient outcomes.