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Retinal Vascular Malformations: Causes, Diagnosis, and Treatment

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Retinal vascular malformations are a rare group of disorders affecting the blood vessels in the retina. Read the article to know more.

Medically reviewed by

Dr. Shikha Gupta

Published At May 10, 2023
Reviewed AtMarch 28, 2024

Introduction:

Retinal vascular malformations are a group of disorders affecting the blood vessels in the retina. The retina is the main part of the eye responsible for processing visual information. The malformation can be congenital means that can be present at birth and acquired means develop later in life. The most common types of retinal vascular malformations include arteriovenous malformations, telangiectasias, and cavernous hemangioma. The condition occurs when there is an abnormal connection between arteries and veins, leading to a disruption in blood flow. The disruption can lead to vision problems. Diagnosis includes comprehensive eye examination and imaging tests. The malformation has a significant effect on vision and quality of life. Early diagnosis and prompt treatment may preserve vision and prevent complications. The article discusses retinal vascular malformations, their types, causes, symptoms, diagnosis, and treatment.

What Are Retinal Vascular Malformations?

Retinal vascular malformations are abnormal structures in the blood vessels of the retina. The retina is a light-sensitive layer of the back of the eye. These malformations can affect the capillaries, arteries, and veins. It can cause various vision problems. If the condition is associated with systemic diseases, it can be life-threatening.

What Are the Types of Retinal Vascular Malformations?

There are mainly two types of retinal vascular malformations that are congenital and acquired.

1) Congenital Retinal Vascular Malformations: The abnormal blood vessels of the retina are present at birth. Examples of congenital vascular malformations include:

  • Familial Exudative Vitreoretinopathy: The genetic disorder affects the blood vessel development in the retina. It can lead to abnormal blood vessel growth, bleeding, leakage, vision problems, and retinal detachment.

  • Coats Disease: The rare genetic disorder in which abnormal blood vessels grow in the retina. The condition can lead to the accumulation of fluid in the retina and leakage. It can also lead to vision problems and retinal detachment.

  • Von Hippel-Lindau Disease: This rare genetic disease can lead to abnormal blood vessel growth in the retina and other body parts. The abnormal blood vessels can bleed and lead to vision problems and even blindness.

  • Wyburn-Mason Syndrome: The rare genetic disorder in which there is a development of abnormal blood vessels in the retina and other brain parts. This can lead to vision problems, seizures, and neurological symptoms.

2) Acquired Retinal Vascular Malformations: The abnormal blood vessels in the retina develop later in life. It can affect the veins, arteries, and capillaries and can cause various vision problems. Examples of acquired vascular malformations are as follows:

  • Diabetic Retinopathy: The high blood sugar level damages the retina blood vessels, leading to leakage, swelling, and formation of new abnormal blood vessels. If left untreated can lead to vision problems and sometimes to blindness.

  • Hypertensive Retinopathy: An increase in blood pressure damages the retina blood vessels and can lead to the narrowing of blood vessels, bleeding, and leakage. If left untreated can lead to vision problems and blindness.

  • Retinal Vein Occlusion: There is a decrease in the blood flow due to the formation of a blood clot in the vein of the retina. The condition is more common in people aged between 40 to 50 and with high blood pressure individuals. It can also lead to various vision problems.

  • Macular Telangiectasia: The rare condition in which there is the formation of blood vessels in the macula. Macula is responsible for detailed and sharp vision. It also can lead to vision loss.

What Are the Causes of Retinal Vascular Malformations?

The causes of retinal vascular malformations depend on the type of malformation. Several factors can contribute to the formation of the condition.

  • Genetics: The condition can be due to genetic retinal vascular disorders such as von Hippel-Lindau's disease.

  • Developmental Abnormalities: During fetal development, developmental abnormalities in the blood vessels of the retina can lead to conditions.

  • Chronic Medical Conditions: Certain medical conditions, such as diabetes and hypertension, can damage the retina blood vessels leading to malformations.

  • Trauma: Trauma to the head or eye can damage the blood vessels of the retina leading to the condition.

  • Age: Some retinal vascular malformation increases with age, such as retinal vein occlusion and macular telangiectasia.

What Are the Symptoms of Retinal Vascular Malformations?

The symptoms of the condition depend on the type and severity of the malformation. It also depends on the malformation location in the retina. The common symptoms include:

  • Blurred or distorted vision.

  • Flashes of light.

  • Headaches.

  • Sensitivity to light.

  • Loss of vision.

  • Pain in the eye, and redness or swelling in the eye.

If the condition is associated with a systemic disease, it can be life-threatening.

How Is Retinal Vascular Malformations Diagnosed?

The diagnosis of retinal vascular malformations involves comprehensive eye exams and additional imaging tests. The type of test may depend on the type and severity of the malformation. Some diagnostic tests are as follows:

  • Dilated Eye Examination: The doctor may use eye drops to widen the pupils and then examine the retina and blood vessels of the eye.

  • Fluorescein Angiography: A doctor may inject a dye into the vein of the arm. The dye travels to the blood vessels of the eye. The camera is used to take images of dye in the eye. It helps in identifying abnormalities in the blood vessels.

  • Optical Coherence Tomography: The non-invasive test use light waves to form detailed images of the retina. It helps in the evaluation of the structure and thickness of the retina.

  • Visual Field Testing: The test helps in the detection of vision loss associated with retinal vascular malformations.

How Can Retinal Vascular Malformations Be Treated?

The treatment options include:

  • Laser Therapy: A doctor may use laser therapy to treat various retinal vascular malformations. A laser is used to seal off the abnormal blood vessels in the retina. It helps in the prevention of further damage.

  • Injections: Anti-vascular endothelial growth factor medications are injected into the eye to decrease abnormal blood vessel growth.

  • Vitrectomy: A doctor may use a surgical procedure to remove the blood and scar tissue that is accumulated in the vitreous gel of the eye. It helps in improving vision.

  • Photodynamic Therapy: The therapy involves light-activated medications into the bloodstream to destroy the abnormal blood vessels in the retina.

Conclusion:

Retinal vascular malformations are abnormal blood vessels that grow in the retina leading to vision problems. The condition can be congenital or acquired. Early detection and prompt treatment are important for preserving vision and preventing complications. An individual may go for a regular eye examination, especially for those with a family history of retinal vascular malformation.

Frequently Asked Questions

1.

Is It Possible to Cure Vascular Malformations?

Yes, vascular malformation can be cured. The treatment is needed to improve the appearance to reduce pain, swelling, and bleeding. With the treatment, many individuals may achieve a high level of performance.

2.

Are Arteriovenous Malformations Seen in Families?

No, arteriovenous malformations do not run in the families. No environmental factors have been identified for neurological arteriovenous malformations. About 5% of arteriovenous malformations may be due to autosomal dominant inheritance genetic mutations.

3.

How Long an Individual With Vascular Malformation Can Live?

An individual with vascular malformation may live a long and full life. Some individuals may live with vascular malformation without it being detected. Cure rates are considered to be 100% for low-grade vascular malformations.

4.

Is Vascular Malformation Considered to Grow?

Yes, sometimes vascular malformations can grow. Over the years, vascular malformations may grow larger and become problematic. This condition is based on the type of vessel involved.

5.

Is There a Possibility of Vascular Malformation to Burst?

Yes, vascular malformations present in the brain and spinal cord experience symptoms, some of which may be significant. In few instances, the weak vessel may burst and spill blood into the brain. This may result in stroke or brain damage.

6.

Which Medications Can Be Used for Vascular Malformation?

There are no particular medications available for the treatment of vascular malformation. Medications may be used to treat symptoms such as headaches and seizures. Research is being done to know about the medications for vascular malformations, but surgeries remain the best treatment option if considered safe and feasible.

7.

Is There a Possibility That a Retinal Vein Occlusion Goes Off on Its Own?

Yes, retinal vein occlusion among 50% of individuals with mild occlusion may get better without any treatment. The healthcare provider may advise for observation for some time. Individuals with severe occlusion of 10 % to 40 % may regain some vision without treatment.

8.

Which Treatment Is Considered Best for Retinal Vein Occlusion?

The best treatment for retinal vein occlusion may include focal laser treatment that is given when macular edema is present. Injections of anti-vascular endothelial growth factor (anti-VEGF) drugs into the eye. These injections act by blocking the growth of new blood vessels and help reduce the glaucoma that can be caused.

9.

How Much Time Is Required for Retinal Vein Occlusion to Recover?

Retinal vein occlusion may take several months to recover some vision among 1/3rd of individuals affected. Another 1/3rd of them remain stable, and a further 1/3rd may deteriorate. The visual recovery mainly depends on the degree of vision loss at the onset of blockage.

10.

What Is the Time Period Required for Branch Retinal Vein Occlusion to Resolve?

The branch retinal vein occlusion is considered major with macular edema, and retinal hemorrhage takes 21 months to resolve. The branch retinal vein occlusion with only macular edema may take 18 months.

11.

Is It Possible for Retinal Vein Occlusion to Improve?

Yes, retinal vein occlusions that are mild in severity may get better without treatment. Retinal vein occlusion in severe cases may get back the vision, but it occurs only in 10-20% of severe cases. Many individuals with central retinal vein occlusion may not get back their vision. It may get better if treated on time. This may be because of the development of irreversible causes.

12.

What Can Be Done to Relieve Retinal Veins From Blockage?

There are no ways to unblock retinal veins. Eye care specialists may help the individual prevent and treat retinal vein occlusion complications. The medications used in such cases include anti-VEGF injections and steroid injections.

13.

Is It Possible to Cure Retinal Dystrophy?

No, there is no cure for inherited retinal dystrophy. The symptoms associated with inherited retinal dystrophy are more severe. Most of these may slowly and steadily worsen the eyesight. Some treatments may help improve the quality of life and in some cases, treatment may help slow vision loss.

14.

Which Is the Newer Treatment Available for Retinal Dystrophy?

The latest treatment called gene therapy, is used for retinal dystrophy. Gene therapy called Luxturna is a newer treatment available for inherited retinal dystrophy with gene mutations in the gene called RPE65. Luxturna provides a working copy of the RPE65 gene to the eye's retinal cells. This copy of the gene helps cells make proteins, which, in turn, helps the visual cycle continue.

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Dr. Shikha Gupta
Dr. Shikha Gupta

Ophthalmology (Eye Care)

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