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Updated: Aug 22, 2026

Anterior High-Resolution Optical Coherence Tomography in the Diagnosis and Therapeutic Monitoring of Ocular Surface Squamous Neoplasia
Published on: August 9, 2024
Eyelid myxoma in Carney complex without PRKAR1A allelic loss
Ekaterini T Tsilou1, Chi-Chao Chan, Fabiano Sandrini
1Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, 10 Center Drive, MSC-1860, Bldg. 10 Room 10N226, Bethesda, MD 20892, USA. tsiloue@nei.nih.gov
Abstract:
Eyelid nodules were investigated in a patient with Carney complex who was heterozygous for the most commonly known PRKAR1A-inactivating mutation, c.578delTG. Immunohistochemical studies confirmed the diagnosis of myxoma. Loss of heterozygosity was not present, suggesting that haploinsufficiency alone was responsible for tumorigenesis of this eyelid lesion.
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