%0 Journal Article %T CENTRAL RETINAL VEIN OCCLUSION IN OTHERWISE HEALTHY CHILDREN AND ADOLESCENTS Association With Multigenetic Variants of Thrombophilia %+ Centre de référence des Maladies Rares en Ophtalmologie [CHU HEGP] (OPHTARA) %+ Centre de Recherche des Cordeliers (CRC (UMR_S_1138 / U1138)) %+ Service d'ophtalmologie [CHU Necker] %+ Institut de Génomique Fonctionnelle de Lyon (IGFL) %+ CHU Amiens-Picardie %+ Périnatalité et Risques Toxiques - UMR INERIS_I 1 (PERITOX) %A Bremond-Gignac, Dominique %A Daruich, Alejandra %A Gallet, Marlene %A Menoud, Pierre Alain %A Nowomiejska, Katarzyna %A Rejdak, Robert %A Behar-Cohen, Francine %A Ben Khalifa, Moncef %A Copin, Henri %< avec comité de lecture %@ 0275-004X %J RETINA. The Journal of Retinal and Vitreous Diseases %I Lippincott, Williams & Wilkins %V 40 %N 7 %P 1339-1343 %8 2020 %D 2020 %R 10.1097/IAE.0000000000002563 %K central retinal vein occlusion %K children %K MTHFR C677T %K PLA1 %K A2 %K low-dose aspirin therapy %Z Life Sciences [q-bio]Journal articles %X 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. %G English %L hal-03548050 %U https://u-picardie.hal.science/hal-03548050 %~ ENS-LYON %~ EPHE %~ CNRS %~ UNIV-PICARDIE %~ UNIV-LYON1 %~ INRA %~ APHP %~ CORDELIERS %~ PSL %~ AGREENIUM %~ CHU-UNIV-PARIS5 %~ SORBONNE-UNIVERSITE %~ SORBONNE-UNIV %~ SU-SCIENCES %~ TEST-DEV %~ UDL %~ UNIV-LYON %~ INRAE %~ UNIV-PARIS %~ UNIVERSITE-PARIS %~ UP-SANTE %~ EPHE-PSL %~ U-PICARDIE %~ PERITOX %~ ALLIANCE-SU