Related Experiment Video

Updated: Oct 3, 2025

Optimization of the Retinal Vein Occlusion Mouse Model to Limit Variability
07:23

Optimization of the Retinal Vein Occlusion Mouse Model to Limit Variability

Published on: August 6, 2021

2.8K

Effects of Common Thrombophilia Factor Mutations in Central Retinal Vein Occlusion

Muhammer Ozgur Cevik1, Sadik Gorkem Cevik2

  • 1Department of Medical Genetics, Adiyaman University Faculty of Medicine, Adiyaman, Turkey.

Beyoglu Eye Journal
|February 21, 2022
PubMed

Insights

The MTHFR C677T gene mutation is a potential risk factor for central retinal vein occlusion (CRVO). Other common thrombophilic polymorphisms were not found to be specifically related to CRVO in this study.

Area of Science:

  • Ophthalmology
  • Genetics
  • Thrombosis

Background:

  • Central retinal vein occlusion (CRVO) is a serious condition causing vision impairment.
  • The exact pathophysiology of CRVO remains unclear, despite links to various systemic conditions.
  • Investigating thrombophilic polymorphisms may elucidate CRVO's underlying mechanisms.

Purpose of the Study:

  • To investigate the association between common thrombophilic polymorphisms and CRVO.
  • To identify potential genetic risk factors contributing to CRVO development.

Main Methods:

  • Genotyping for Factor V Leiden (G1691A), prothrombin (Factor II G20210A), MTHFR (C677T and A1298C), and PAI-1 5G/4G polymorphisms in 33 CRVO patients and 30 controls.
  • Assessment of systemic conditions including hypertension, diabetes mellitus, glaucoma, smoking, and history of thrombosis.

Main Results:

  • MTHFR C677T polymorphism (heterozygous or homozygous) was identified as a potential risk factor for CRVO and systemic thrombosis.
  • No significant differences were observed in the prevalence of diabetes mellitus, hypertension, smoking, or glaucoma between CRVO patients and controls.
  • A history of thrombosis was significantly more common in CRVO patients compared to controls (p=0.001).
  • Ischemic CRVO cases showed a higher incidence of diabetes mellitus (p=0.002) and hypertension (p=0.031) compared to non-ischemic cases.

Conclusions:

  • The MTHFR C677T mutation is a potential risk factor for CRVO.
  • Factor V Leiden, prothrombin, MTHFR A1298C, and PAI-1 5G/4G mutations were not specifically linked to CRVO in this cohort.
  • Diabetes mellitus and hypertension are significant factors in ischemic CRVO.
  • Further research with larger sample sizes is recommended to validate these findings.
Abstract

Keywords:
Central retinal vein occlusionMTHFR (A1298C)MTHFR (C677T)PAI-1 5G/4Gfactor V Leiden (G1691A)hereditary thrombophiliaprothrombin (Factor II G20210A)

More Related Videos

In Vivo Vascular Injury Readouts in Mouse Retina to Promote Reproducibility07:35

In Vivo Vascular Injury Readouts in Mouse Retina to Promote Reproducibility

Published on: April 21, 2022

2.3K
Measurement of Factor V Activity in Human Plasma Using a Microplate Coagulation Assay13:08

Measurement of Factor V Activity in Human Plasma Using a Microplate Coagulation Assay

Published on: September 9, 2012

19.1K

Related Concept Videos

Venous Thrombosis I: Introduction01:30

Venous Thrombosis I: Introduction

Venous thrombosis, the most common disorder of the veins, involves the formation of a thrombus or blood clot associated with vein inflammation. It can be classified as either superficial vein thrombosis or deep vein thrombosis.Superficial Vein Thrombosis: This involves the formation of a thrombus in a superficial vein, usually the greater or lesser saphenous vein. Though less severe than deep vein thrombosis (DVT), SVT can lead to complications if untreated.Deep Vein Thrombosis (DVT): This...
58
Venous Thrombosis III: Interprofessional Care01:29

Venous Thrombosis III: Interprofessional Care

Venous thrombosis requires effective prevention and treatment strategies to improve patient outcomes and reduce potential complications.Prevention StrategiesHealthcare providers must prioritize preventing venous thromboembolism (VTE) for all adult patients upon admission. Interventions depend on bleeding and thrombosis risk, medical history, current medications, diagnoses, planned procedures, and patient preferences. Patients on bed rest should change positions every two hours and, if not...
43
Venous Thrombosis II: Clinical Manifestations and Diagnostic Studies01:20

Venous Thrombosis II: Clinical Manifestations and Diagnostic Studies

The key difference between Superficial Vein Thrombosis (SVT) and Deep Vein Thrombosis (DVT) lies in their location and severity.Clinical ManifestationsSVT typically presents with localized pain, tenderness, and redness along the course of a superficial vein, often accompanied by a palpable, cord-like structure under the skin. This condition is usually less dangerous than DVT but can be uncomfortable and may lead to complications such as cellulitis or, rarely, a clot extension into the deep...
53
Anticoagulant Drugs: Low-Molecular-Weight Heparins01:30

Anticoagulant Drugs: Low-Molecular-Weight Heparins

Hemostasis is a crucial process that prevents excessive blood loss from damaged blood vessels. It involves various mechanisms such as vasoconstriction, platelet adhesion and activation, and fibrin formation. The importance of each mechanism depends on the type of vessel injury. In contrast, thrombosis is the abnormal formation of a blood clot within the blood vessels, leading to potential complications if the clot obstructs blood flow. Thrombosis can be caused by increased coagulability of the...
972
Disorders of Hemostasis01:24

Disorders of Hemostasis

Hemostasis, the process that stops bleeding after a blood vessel injury, is crucial for maintaining the integrity of the circulatory system. However, disorders of hemostasis can disrupt this delicate balance, leading to either excessive clotting or bleeding. These disorders can be broadly classified into thromboembolic disorders and bleeding disorders.
Thromboembolic Disorders
Two factors primarily cause thromboembolic conditions.
1.3K
Varicose Veins I: Introduction01:26

Varicose Veins I: Introduction

Varicose veins, or varicosities, are abnormally dilated and twisted superficial veins caused by venous valve incompetence. This condition commonly affects the lower extremities, especially the saphenous veins, due to the higher pressure from prolonged standing and walking. However, varicosities can also occur in other areas, such as the esophagus, vulva, spermatic cords, and anorectal region.Etiology and typesPrimary varicose veins, often idiopathic, are more common in women due to inherent...
32