| Typical ocular findings in a patient with multiple endocrine neoplasia type 2b syndrome. | |
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MedLine Citation:
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PMID: 11482345 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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N Eter; D Klingmüller; W Höppner; M Spitznas |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv für klinische und experimentelle Ophthalmologie Volume: 239 ISSN: 0721-832X ISO Abbreviation: Graefes Arch. Clin. Exp. Ophthalmol. Publication Date: 2001 Jun |
Date Detail:
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Created Date: 2001-08-02 Completed Date: 2001-12-04 Revised Date: 2009-11-19 |
Medline Journal Info:
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Nlm Unique ID: 8205248 Medline TA: Graefes Arch Clin Exp Ophthalmol Country: Germany |
Other Details:
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Languages: eng Pagination: 391-4 Citation Subset: IM |
Affiliation:
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Department of Ophthalmology, Bonn University Medical Center, Germany. eter@uni-bonn.de |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adrenal Gland Neoplasms
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pathology,
surgery Adrenalectomy Adult Carcinoma, Medullary / pathology, surgery Conjunctival Neoplasms / diagnosis* Cornea / innervation*, pathology Corneal Diseases / diagnosis* Cranial Nerve Diseases / diagnosis* DNA Mutational Analysis Drosophila Proteins* Humans Male Multiple Endocrine Neoplasia Type 2b / diagnosis*, genetics Ophthalmic Nerve / pathology* Pheochromocytoma / pathology, surgery Point Mutation Proto-Oncogene Proteins / genetics Proto-Oncogene Proteins c-ret Receptor Protein-Tyrosine Kinases / genetics Syndrome Thyroid Neoplasms / pathology, surgery Thyroidectomy |
| Chemical | |
Reg. No./Substance:
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0/Drosophila Proteins; 0/Proto-Oncogene Proteins; EC 2.7.1.112/Ret oncogene protein, Drosophila; EC 2.7.10.1/Proto-Oncogene Proteins c-ret; EC 2.7.10.1/Receptor Protein-Tyrosine Kinases |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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