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Title: Herpetic ocular manifestations in a patient with GATA2 deficiency.
Issue Date: Apr-2018
Citation: Saudi J Ophthalmol.;(32)2:164-166
Abstract: Specific genetic deficiencies are a rare cause that should be included in the diagnostic algorithm of disseminated herpetic lesions. The aim of this article is to describe the ocular herpetic manifestations in a rare genetic disorder called GATA2 deficiency. We present the clinical case of a 26-year-old male with dendritic ulcers in his cornea, marrow aplasia and idiopathic chronic lymphedema. He was diagnosed with GATA2 deficiency. GATA2 gene is critical for the genesis and function of hematopoietic stem cells. Its deficiency can cause myelodysplastic syndromes, congenital lymphedema and severe viral infections. Our patient presented these three manifestations, added to a deletion in 20q12 that confirmed the suspicion of GATA2 mutation. A bone marrow transplant was suggested as definitive treatment. The corneal herpetic epithelial lesion was analogous to a regular hepetic keratitis with none stromal keratitis.
PMID: 29942189
Rights: openAccess
ISSN: 1319-4534
Appears in Collections:Hospitales > H. U. 12 de Octubre > Artículos

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