CENTRAL RETINAL VEIN OCCLUSION IN OTHERWISE HEALTHY CHILDREN AND ADOLESCENTS: Association With Multigenetic Variants of Thrombophilia
Research article published in Retina (Philadelphia, Pa.) (2020)
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, including Factor XII, platelet glycoprotein (GP) IIIa PlA1/A2 (rs5918), and GPIa/IIa C807T (rs1126643) and G873A (rs1062535) mutations, was performed by PCR amplification and Sanger sequencing of PCR products. The genotyping of prothrombin G20210A, Leiden Factor V G1691A, methylenetetrahydrofolate reductase (MTHFR) C677T/A1298C mutations, and plasminogen activator inhibitor-1 4G/5G polymorphisms 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 for MTHFR (C677T) and GPIIIa PlA1/A2 were detected in Case 1, mutations for MTHFR (C677T), GPIIIa PlA1/A2, and GPIa/IIa in Case 2, mutations for MTHFR (C677T) and GPIa/IIa in Case 3, and mutation for MTHFR (A12986C), GPIIIa Pl A1/A2, and GPIa/IIa in 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.
Abstract sourced from PubMed (NCBI) for the cited record. See the original publication for the authoritative version.
Summary
Peer-reviewed clinical and outcomes research relevant to anticoagulation, leech therapy, and microsurgical flap management. Indexed in PubMed and verified against the NCBI record.
Why This Matters for Hirudotherapy
This retrospective case series reports four otherwise-healthy children with central retinal vein occlusion who, on genetic screening, each carried combined thrombophilia-associated variants (the panel screened included MTHFR, platelet glycoprotein GPIIIa/GPIa-IIa, prothrombin G20210A, Factor V Leiden, PAI-1, and Factor XII), and who were managed with preventive low-dose aspirin; among the cases with reported follow-up (Cases 1 and 2), no recurrence or other thrombotic event occurred over 5 and 8 years respectively. Its relevance to ASH is indirect: it underscores how venous thrombotic events and inherited prothrombotic states are evaluated and managed, context adjacent to the venous-congestion and thrombosis themes in which leech therapy and the anticoagulant secretome are discussed. Caveat: this is a very small pediatric case series about genetic thrombophilia and aspirin prophylaxis in retinal vein occlusion; it does not involve leeches or hirudotherapy and supports no causal or therapeutic conclusions about leech treatment.
Citation
CENTRAL RETINAL VEIN OCCLUSION IN OTHERWISE HEALTHY CHILDREN AND ADOLESCENTS: Association With Multigenetic Variants of Thrombophilia.
BremondGignac et al. · Retina (Philadelphia, Pa.), 2020
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