Overview
Macular telangiectasia type 2 (also called MacTel type 2 or idiopathic juxtafoveal retinal telangiectasis type 2) is an eye condition that affects the macula, which is the central part of the retina responsible for sharp, detailed vision. In this disease, the tiny blood vessels (capillaries) near the center of the macula become abnormal and dilated. Over time, the retinal cells in this area slowly break down, leading to gradual loss of central vision. The condition typically affects both eyes, though one eye may be worse than the other. Symptoms usually begin in middle age, often between the ages of 40 and 60. People may first notice difficulty reading, a slight blur in the center of their vision, or a gray spot in their visual field. The disease progresses slowly over many years. In some cases, abnormal new blood vessels can grow under the retina (called subretinal neovascularization), which can cause more sudden vision loss. Currently, there is no approved cure for macular telangiectasia type 2. Treatment options are limited. Anti-VEGF injections (such as ranibizumab or aflibercept) can be used when abnormal new blood vessels develop, but these do not treat the underlying disease. A major clinical trial called the MacTel Project has been studying ciliary neurotrophic factor (CNTF) delivered through a sustained-release implant, which has shown some promise in slowing disease progression. Research into the genetic and metabolic causes of MacTel type 2 is ongoing and may lead to new therapies in the future.
Key symptoms:
Gradual blurring of central visionDifficulty reading small printGray or blank spot in the center of visionDistorted vision where straight lines appear wavyDifficulty seeing in low light conditionsReduced ability to recognize facesSlow loss of fine detail visionProblems with contrast sensitivityDifficulty driving, especially at nightSudden worsening of vision if new abnormal blood vessels develop
Multifactorial
Caused by a mix of several genes and environmental factors
Adult
Begins in adulthood (age 18 or older)
FDA & Trial Timeline
2 eventsNeurotech Pharmaceuticals — PHASE3
Encelto: FDA approved
treatment of adults with idiopathic macular telangiectasia type 2 (MacTel)
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
1 availableEncelto
treatment of adults with idiopathic macular telangiectasia type 2 (MacTel)
Specialists
View all specialists →No specialists are currently listed for NON RARE IN EUROPE: Macular telangiectasia type 2.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to NON RARE IN EUROPE: Macular telangiectasia type 2.
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Caregiver Resources
NORD Caregiver Resources
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Mental Health Support
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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.What stage is my macular telangiectasia type 2, and how much has it progressed?,Do I have any abnormal new blood vessels that need treatment right now?,How often should I have follow-up eye exams?,Are there any clinical trials I might be eligible for?,Should I have my serine levels tested, and would supplementation help me?,What low vision aids or rehabilitation services do you recommend?,Should my family members be screened for this condition?
Common questions about NON RARE IN EUROPE: Macular telangiectasia type 2
What is NON RARE IN EUROPE: Macular telangiectasia type 2?
Macular telangiectasia type 2 (also called MacTel type 2 or idiopathic juxtafoveal retinal telangiectasis type 2) is an eye condition that affects the macula, which is the central part of the retina responsible for sharp, detailed vision. In this disease, the tiny blood vessels (capillaries) near the center of the macula become abnormal and dilated. Over time, the retinal cells in this area slowly break down, leading to gradual loss of central vision. The condition typically affects both eyes, though one eye may be worse than the other. Symptoms usually begin in middle age, often between the
How is NON RARE IN EUROPE: Macular telangiectasia type 2 inherited?
NON RARE IN EUROPE: Macular telangiectasia type 2 follows a multifactorial inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does NON RARE IN EUROPE: Macular telangiectasia type 2 typically begin?
Typical onset of NON RARE IN EUROPE: Macular telangiectasia type 2 is adult. Age of onset can vary across affected individuals.
Are there clinical trials for NON RARE IN EUROPE: Macular telangiectasia type 2?
Yes — 1 recruiting clinical trial is currently listed for NON RARE IN EUROPE: Macular telangiectasia type 2 on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
What treatment and support options exist for NON RARE IN EUROPE: Macular telangiectasia type 2?
1 patient support program are currently tracked on UniteRare for NON RARE IN EUROPE: Macular telangiectasia type 2. See the treatments and support programs sections for copay assistance, eligibility, and contact details.