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Disease Profile
Macular telangiectasia type 2
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
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Age of onset
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ICD-10
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Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Idiopathic juxtafoveal retinal telangiectasis; Idiopathic juxtafoveal telangiectasis; IJT;
Categories
Eye diseases
Summary
Macular telangiectasia (MacTel) type 2 is an
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
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]
Cause
Some researchers have speculated that people with diabetes,
Organizations
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
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Macular Disease Foundation Australia
Suite 902, Level 9
447 Kent Street
Sydney, 2000 Australia
Telephone: 1800 111 709
E-mail: [email protected]
Website: https://www.mdfoundation.com.au/ -
Prevent Blindness America
211 West Wacker Drive, Suite 1700
Chicago, IL 60606
Toll-free: 800-331-2020
E-mail: [email protected]
Website: https://www.preventblindness.org/
Organizations Providing General Support
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National Alliance for Eye and Vision Research (NAEVR)
5515 Security Lane
Suite 500
Rockville, MD 20852
Telephone: +1-240-221-2905
E-mail: [email protected]
Website: https://www.eyeresearch.org/ -
Retina International
Suite 108, Camden Business Centre
12 Camden Row
Dublin 8
Ireland
Telephone: +353 1 472 0468
E-mail: [email protected]
Website: https://www.retina-international.org/
Learn more
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
- The American Society of Retina Specialists has a fact sheet about Macular telangiectasia type 2.
- Macular Disease Foundation Australia has a fact sheet about Macular telangiectasia type 2.
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.
References
- Boyd K, Vemulakonda GA. What Is Macular Telangiectasia?. American Academy of Ophthalmology. April 27, 2018; https://www.aao.org/eye-health/diseases/macular-telangiectasia.
- Macular Telangiectasia (“MacTel”). Macular Disease Foundation Australia. July, 2015; https://www.mdfoundation.com.au/sites/default/files/MDFA_MacularTelangiectasia-MacTel_Factsheet_web.pdf.
- About Macular Telangiectasia (MacTel). The Lowy Medical Research Institute. https://www.lmri.net/mactel/macular-telangiectasia-mactel/. Accessed 5/3/2018.
- 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.
- 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/.
- Idiopathic Juxtafoveal Telangiectasis. American Society of Retina Specialists. 2016; https://www.asrs.org/content/documents/fact_sheet_28_idiopathic_juxtafoveal_telangiectasis.pdf.
- 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.
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