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. 2024 Mar 27;117(3):226-228.
doi: 10.1093/qjmed/hcad259.

Multiple endocrine neoplasia type 2A syndrome presenting with corneal nerve thickening

I Petrie  1 , N Knox Cartwright  2 , H Roberts  2   3 , E Kyrodimou  4 , C Moudiotis  5 , M Owens  6 , R Cleaver  7 , J Smith  1 , B Vaidya  3   8
Affiliations

Multiple endocrine neoplasia type 2A syndrome presenting with corneal nerve thickening

I Petrie et al. QJM. .
No abstract available

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Conflict of interest statement

None declared.

Figures

Figure 1.
Figure 1.
(A) Slit-lamp examination showing prominent corneal nerves (red arrows). (B) Pedigree of the family. Females are designated by circles, and males by squares. II.2 is the proband. Family members carrying pathogenic RET gene variant, p.(Val804Met) are indicated with blackened symbols. Histology following thyroidectomy showed medullary thyroid carcinoma (MTC) in II.2, C-cell hyperplasia (CCH) in II.3 and normal features in III.1. Corneal nerve thickening (CNT) was seen in II.2 but absent in II.3 and III.1. (C) Thyroid histology from the proband consistent with MTC (Haematoxylin & Eosin, magnification 10×). (D) Immunohistochemical staining for calcitonin in the thyroid specimen from the proband confirming MTC (magnification 4×).
See this image and copyright information in PMC

References

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