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CENTRAL RETINAL VEIN OCCLUSION IN OTHERWISE HEALTHY CHILDREN AND ADOLESCENTS Association With Multigenetic Variants of Thrombophilia

Abstract : Purpose: To report cases of central retinal vein occlusion in otherwise healthy children showing combined genetic variants of thrombophilia. Methods: Ophthalmological, pediatric records and genetic analyses of thrombophilia-associated variants were retrospectively reviewed in four children diagnosed with central retinal vein occlusion. Genetic screening, includingFactor XII,platelet glycoprotein (GP) IIIa PlA1/A2 (rs5918), andGPIa/IIa C807T (rs1126643)andG873A (rs1062535)mutations, was performed by PCR amplification and Sanger sequencing of PCR products. The genotyping ofprothrombin G20210A,Leiden Factor V G1691A, methylenetetrahydrofolate reductase (MTHFR) C677T/A1298Cmutations, andplasminogen activator inhibitor-1 4G/5Gpolymorphisms was performed by real-time PCR with Fluorescence Resonance Energy Transfer (FRET) probes. Results: The genotyping analysis identified combined genetic variants of thrombophilia in each patient. Mutations forMTHFR (C677T)andGPIIIa PlA1/A2were detected in Case 1, mutations forMTHFR (C677T),GPIIIa PlA1/A2, andGPIa/IIain Case 2, mutations forMTHFR (C677T)andGPIa/IIain Case 3, and mutation forMTHFR (A12986C),GPIIIa Pl A1/A2, andGPIa/IIain Case 4. Preventive low-dose aspirin therapy was prescribed to all patients. During a follow-up of 5 and 8 years, neither central retinal vein occlusion recurrence nor any other thrombotic event was observed in Cases 1 and 2, respectively. Conclusion: In otherwise healthy children presenting central retinal vein occlusion, genetic investigations for thrombophilia-associated variants should be considered, given the possible long-term benefit of aspirin prophylaxis.
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https://hal-u-picardie.archives-ouvertes.fr/hal-03548050
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Soumis le : samedi 29 janvier 2022 - 14:23:06
Dernière modification le : mercredi 28 septembre 2022 - 16:20:12

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Dominique Bremond-Gignac, Alejandra Daruich, Marlene Gallet, Pierre Alain Menoud, Katarzyna Nowomiejska, et al.. CENTRAL RETINAL VEIN OCCLUSION IN OTHERWISE HEALTHY CHILDREN AND ADOLESCENTS Association With Multigenetic Variants of Thrombophilia. RETINA. The Journal of Retinal and Vitreous Diseases, Lippincott, Williams & Wilkins, 2020, 40 (7), pp.1339-1343. ⟨10.1097/IAE.0000000000002563⟩. ⟨hal-03548050⟩

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