National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Macular telangiectasia type 2

Not a rare disease Not a rare disease
Other Names:
Idiopathic juxtafoveal retinal telangiectasis; Idiopathic juxtafoveal telangiectasis; IJT; Idiopathic juxtafoveal retinal telangiectasis; Idiopathic juxtafoveal telangiectasis; IJT; Idiopathic macular telangiectasia; Perifoveal telangiectasis; Type 2 MacTel; Idiopathic MacTel; IJFT; Juxtafoveal retinal telangiectasia type 2; Idiopathic juxtafoveal retinal telangiectasia See More
Categories:
Macular telangiectasia (MacTel) type 2 is an eye disease affecting the macula that causes loss of central vision. MacTel develops when there are problems with the tiny blood vessels (capillaries) around the fovea, an area in the center of the macula where eyesight is the sharpest. In MacTel type 2, the capillaries around the fovea widen (become dilated) and leak. This causes fluid build-up and swelling, impairing reflection of light and causing progressive vision loss. As damage continues, new blood vessels may form, which can break and leak. This can lead to the development of scar tissue, further impairing central vision. MacTel type 2 affects both eyes and occurs most often in middle-aged adults.[1][2][3]

Symptoms of MacTel type 2 can be subtle at first and may include slow loss of vision, distorted vision, blurring, trouble reading, and a spot of decreased or absent vision in the visual field.[1][2] The vision loss in MacTel type 2 generally progresses over ten to twenty years (sometimes more). However, there may be periods when symptoms do not worsen, interspersed with episodes of sudden worsening of vision.[2][3] MacTel type 2 usually does not cause total blindness, but vision loss can significantly impact quality of life.[1][3]

The underlying cause of MacTel type 2 is not known (idiopathic). While it sometimes "runs in families" and may have a genetic component, no specific genes responsible for MacTel type 2 have been identified.[3][4][5] Environmental factors may also play a role in the development of MacTel type 2.[5] Some researchers believe that people with diabetes, hypertension, obesity, or other health problems may be at increased risk for developing MacTel type 2.[1][4]

Vision loss associated with MacTel type 2 may be permanent. While no treatment has been proven to prevent progression, treatment may be helpful in some cases. Treatment options may include injection of anti-VEGF medications to limit the growth of new blood vessels, and the use of low vision aids.[1][2][6]
Last updated: 5/3/2018
The underlying cause of macular telangiectasia (MacTel) type 2 is not yet known (idiopathic). MacTel type 2 sometimes "runs in families."[3][4] There have been published reports of siblings (including identical twins), as well as parents and children who have had MacTel type 2. While this suggests that genes play a role in causing at least some cases of MacTel type 2, no specific genes responsible for MacTel type 2 have been identified.[3][4][5] Environmental factors as well as interactions between genes and environment may also play a role inn the development of MacTel type 2.[5]

Some researchers have speculated that people with diabetes, hypertension, obesity, or other health problems may be at increased risk for developing MacTel type 2.[1][4] However, the possible associations between these health problems and MacTel type 2 need further study.
Last updated: 5/3/2018

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Macular telangiectasia type 2. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.
  • The U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. There is a study titled Screening Study for the Evaluation and Diagnosis of Potential Research Participants which may be of interest to you.

General Clinical Trials & Research

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Macular telangiectasia type 2. Click on the link to view a sample search on this topic.

Selected Full-Text Journal Articles

  • Charbel Issa P, Gillies MC, Chew EY, Bird AC, Heeren TF, Peto T, Holz FG, Scholl HP. Macular telangiectasia type 2. Prog Retin Eye Res. 2013 May;34:49-77.

Diagrams/Images

  • A diagram of the eye can be found by visiting MedlinePlus, the National Library of Medicine Web site designed to help you research your health questions. Click on MedlinePlus to view the diagram.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • The research I find says no one knows what causes this rare disease. If this is the case, then how does one know that the eyes being exposed to environmental chemicals cannot cause this rare disease? See answer

  • What causes idiopathic juxtafoveal retinal telangiectasia? See answer


  1. Boyd K, Vemulakonda GA. What Is Macular Telangiectasia?. American Academy of Ophthalmology. April 27, 2018; https://www.aao.org/eye-health/diseases/macular-telangiectasia.
  2. Macular Telangiectasia (“MacTel”). Macular Disease Foundation Australia. July, 2015; https://www.mdfoundation.com.au/sites/default/files/MDFA_MacularTelangiectasia-MacTel_Factsheet_web.pdf.
  3. About Macular Telangiectasia (MacTel). The Lowy Medical Research Institute. http://www.lmri.net/mactel/macular-telangiectasia-mactel/. Accessed 5/3/2018.
  4. Scerri TS, Quaglieri A, Cai C, et al. Genome-wide analyses identify common variants associated with macular telangiectasia type 2. Nat Genet. April, 2017; 49(4):559-567. https://www.nature.com/articles/ng.3799.
  5. Charbel Issa P, Gillies MC, Chew EY, et al. Macular telangiectasia type 2. Prog Retin Eye Res. May, 2013; 34:49-77. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3638089/.
  6. Idiopathic Juxtafoveal Telangiectasis. American Society of Retina Specialists. 2016; https://www.asrs.org/content/documents/fact_sheet_28_idiopathic_juxtafoveal_telangiectasis.pdf.
  7. Nowilaty SR, Al-Shamsi HN, Al-Khars W. Idiopathic juxtafoveolar retinal telangiectasis: a current review. Middle East Afr J Ophthalmol. July, 2010; 17(3):224-241. Accessed 2/10/2014.