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