Rare idiopathic macular telangiectasia

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Overview

Rare idiopathic macular telangiectasia (also called MacTel or idiopathic macular telangiectasia type 2, or simply MacTel type 2) is an uncommon eye disease that affects the macula — the small central part of the retina responsible for sharp, detailed vision. In this condition, tiny blood vessels in and around the macula become abnormal, leaking fluid or growing in unusual ways. Over time, this damages the light-sensitive cells in the center of the retina, leading to gradual loss of central vision. The word 'idiopathic' means doctors do not yet fully understand what causes it, though research suggests a combination of genetic and environmental factors may play a role. The most common symptoms include blurry or distorted central vision, difficulty reading fine print, and seeing a gray or dark spot in the center of your visual field. Side (peripheral) vision is usually not affected. The disease tends to progress slowly over many years and typically affects both eyes, though one eye may be worse than the other. Currently, there is no approved cure or treatment that fully stops the disease. Some patients with abnormal blood vessel growth (called neovascularization) may benefit from injections into the eye (anti-VEGF therapy). Researchers are actively studying new treatments, including a promising approach called ciliary neurotrophic factor (CNTF) delivered via a small implant in the eye. Low vision aids and rehabilitation services can help people adapt to vision changes and maintain quality of life.

Key symptoms:

Blurry or distorted central visionDifficulty reading fine print or recognizing facesA gray, dark, or missing spot in the center of visionStraight lines appearing wavy or bentColors appearing less vivid or washed out in the center of visionNeeding brighter light to readSlow loss of sharpness in central vision over timeDifficulty with tasks requiring fine detail, like threading a needleOne eye may seem worse than the other

Inheritance

Multifactorial

Caused by a mix of several genes and environmental factors

Age of Onset

Adult

Begins in adulthood (age 18 or older)

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Rare idiopathic macular telangiectasia.

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No actively recruiting trials found for Rare idiopathic macular telangiectasia at this time.

New trials open frequently. Follow this disease to get notified.

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No specialists are currently listed for Rare idiopathic macular telangiectasia.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Rare idiopathic macular telangiectasia.

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Community

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Latest news about Rare idiopathic macular telangiectasia

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Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

Rare disease caregiving can be isolating. Connect with counseling and peer support.

Family & Caregiver Grants

Financial assistance programs specifically for caregivers of rare disease patients.

Social Security Disability

Learn how rare disease patients may qualify for SSDI/SSI benefits.

Questions for your doctor

Bring these to your next appointment

  • Q1.How advanced is my MacTel, and which stage am I at?,How often should I come in for monitoring, and what tests will you use to track changes?,Do I have any signs of abnormal blood vessel growth that need treatment now?,Are there any clinical trials I might be eligible for?,Should I be referred to a low vision rehabilitation specialist?,Is there anything I can do — such as diet, supplements, or lifestyle changes — that might help protect my vision?,Should my family members be screened for this condition?

Common questions about Rare idiopathic macular telangiectasia

What is Rare idiopathic macular telangiectasia?

Rare idiopathic macular telangiectasia (also called MacTel or idiopathic macular telangiectasia type 2, or simply MacTel type 2) is an uncommon eye disease that affects the macula — the small central part of the retina responsible for sharp, detailed vision. In this condition, tiny blood vessels in and around the macula become abnormal, leaking fluid or growing in unusual ways. Over time, this damages the light-sensitive cells in the center of the retina, leading to gradual loss of central vision. The word 'idiopathic' means doctors do not yet fully understand what causes it, though research s

How is Rare idiopathic macular telangiectasia inherited?

Rare idiopathic macular telangiectasia follows a multifactorial inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Rare idiopathic macular telangiectasia typically begin?

Typical onset of Rare idiopathic macular telangiectasia is adult. Age of onset can vary across affected individuals.