Idiopathic macular telangiectasia type 1

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Overview

Idiopathic macular telangiectasia type 1 (also called MacTel type 1 or aneurysmal telangiectasia) is a rare eye condition that affects the macula, which is the central part of the retina responsible for sharp, detailed vision. In this disease, tiny blood vessels (capillaries) in the macula become abnormally widened and leaky, a process called telangiectasia. This typically affects only one eye, though both eyes can sometimes be involved. The condition leads to fluid leaking from these abnormal blood vessels into the surrounding retinal tissue, causing swelling (macular edema) and gradual vision problems. Patients usually notice a slow decline in central vision, which can make it harder to read, recognize faces, or see fine details. The peripheral (side) vision is generally preserved. The disease tends to appear in middle-aged adults, more commonly in men. The term "idiopathic" means the exact cause is unknown, though it is not considered a hereditary or genetic condition in most cases. Treatment focuses on managing the leaky blood vessels and reducing macular swelling. Options include laser photocoagulation to seal leaking vessels and injections of anti-VEGF medications (such as ranibizumab or bevacizumab) directly into the eye to reduce abnormal blood vessel growth and leakage. While these treatments can help stabilize or improve vision, there is currently no cure for the underlying condition. Regular monitoring by a retinal specialist is essential to track disease progression and adjust treatment as needed.

Also known as:

Key symptoms:

Gradual loss of central visionBlurred or distorted visionDifficulty reading small printTrouble recognizing facesSwelling in the center of the retina (macular edema)Visible abnormal blood vessels in the macula on eye examLipid deposits (hard exudates) in the retinaMicroaneurysms visible on retinal imagingReduced visual sharpness in one eyeMetamorphopsia (straight lines appearing wavy or bent)

Inheritance

Sporadic

Usually appears on its own, not inherited from a parent

Age of Onset

Adult

Begins in adulthood (age 18 or older)

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Idiopathic macular telangiectasia type 1.

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No actively recruiting trials found for Idiopathic macular telangiectasia type 1 at this time.

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No specialists are currently listed for Idiopathic macular telangiectasia type 1.

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 Idiopathic macular telangiectasia type 1.

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Community

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Caregiver Resources

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Questions for your doctor

Bring these to your next appointment

  • Q1.How much vision loss do I currently have, and what is the expected course of my condition?,Which treatment option do you recommend for me, and how often will I need treatment?,What are the risks and side effects of anti-VEGF injections or laser treatment?,How often should I have follow-up eye exams to monitor my condition?,Are there any signs or symptoms I should watch for that would require urgent care?,Would low-vision rehabilitation services or visual aids help me in my daily life?,Are there any clinical trials or new treatments being studied for this condition?

Common questions about Idiopathic macular telangiectasia type 1

What is Idiopathic macular telangiectasia type 1?

Idiopathic macular telangiectasia type 1 (also called MacTel type 1 or aneurysmal telangiectasia) is a rare eye condition that affects the macula, which is the central part of the retina responsible for sharp, detailed vision. In this disease, tiny blood vessels (capillaries) in the macula become abnormally widened and leaky, a process called telangiectasia. This typically affects only one eye, though both eyes can sometimes be involved. The condition leads to fluid leaking from these abnormal blood vessels into the surrounding retinal tissue, causing swelling (macular edema) and gradual visio

How is Idiopathic macular telangiectasia type 1 inherited?

Idiopathic macular telangiectasia type 1 follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Idiopathic macular telangiectasia type 1 typically begin?

Typical onset of Idiopathic macular telangiectasia type 1 is adult. Age of onset can vary across affected individuals.