Kindred with prominent corneal nerves associated with a mutation in codon 804 of RET on chromosome 10q11

Archives of Ophthalmology

Volumn 128, Issue 2, 2010, Pages 247-249

  Ong, Desiree S ^a   Lakhani, Vipul ^a   Oates Jr , John A ^a   O'Day, Denis M ^a  

^a VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CALCITONIN; METADRENALIN; PROTEIN RET;

ADULT; AGED; APPENDECTOMY; ARTICLE; ASPIRATION BIOPSY; CALCITONIN BLOOD LEVEL; CARCINOID; CASE REPORT; CATECHOLAMINE BLOOD LEVEL; CHROMOSOME 10; CODON; COLLEGE STUDENT; CORNEA DYSTROPHY; CORNEA NERVE; ECHOGRAPHY; EXON; EYE EXAMINATION; FAMILY HISTORY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; GRANDPARENT; HISTOLOGY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; HYPERLIPIDEMIA; HYPERPARATHYROIDISM; LYMPH NODE DISSECTION; LYMPH NODE METASTASIS; MALE; MIGRAINE; MYOPIA; NERVE; PARENT; PRIORITY JOURNAL; PROPHYLAXIS; SIPPLE SYNDROME; VISUAL ACUITY;

AGED; CARCINOMA, MEDULLARY; CHROMOSOMES, HUMAN, PAIR 10; CODON; CORNEA; FEMALE; HUMANS; MALE; MIDDLE AGED; MULTIPLE ENDOCRINE NEOPLASIA TYPE 2A; MUTATION; OPHTHALMIC NERVE; PEDIGREE; PROTO-ONCOGENE PROTEINS C-RET; THYROID NEOPLASMS; YOUNG ADULT;

EID: 76349083384     PISSN: 00039950     EISSN: 15383601     Source Type: Journal    
DOI: 10.1001/archophthalmol.2009.389     Document Type: Article

References (5)

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2. Takai S, Kinoshita S, Tanaka F, Ikeda M, Tanaka N, Kobayashi T. Prominent corneal nerves in patients with multiple endocrine neoplasia type 2A: diagnostic implications. World J Surg. 1992;16(4):620-624.
3. Kinoshita S, Tanaka F, Ohashi Y, Ikeda M, Takai S. Incidence of prominent corneal nerves in multiple endocrine neoplasia type 2A. Am J Ophthalmol. 1991;111(3):307-311.
4. Kasprzak L, et al. Familial medullary thyroid carcinoma and prominent corneal nerves associated with the germline V804M and V7781 mutations on the same allele of RET. J Med Genetics. 2001;38:784-787.
5. Feldman GL, Edmonds MW, Ainsworth PJ, et al. Variable expressivity of familial medullary thyroid carcinoma due to a RET V804M (GTG>ATG) mutation. Surgery. 2000;128(1):93-98.