Accéder directement au contenu Accéder directement à la navigation
Article dans une revue

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.
Type de document :
Article dans une revue
Liste complète des métadonnées

https://hal-u-picardie.archives-ouvertes.fr/hal-03548050
Contributeur : Louise Dessaivre Connectez-vous pour contacter le contributeur
Soumis le : samedi 29 janvier 2022 - 14:23:06
Dernière modification le : jeudi 7 avril 2022 - 13:58:21

Identifiants

Citation

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, 2020, 40 (7), pp.1339-1343. ⟨10.1097/IAE.0000000000002563⟩. ⟨hal-03548050⟩

Partager

Métriques

Consultations de la notice

6