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

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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?

The following information may help to address your question:


What causes macular telangiectasia type 2?

The underlying cause of macular telangiectasia (MacTel) type 2 is not yet known (idiopathic). MacTel type 2 sometimes "runs in families."[1][2] 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.[1][2][3] Environmental factors as well as interactions between genes and environment may also play a role inn the development of MacTel type 2.[3]

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

Can an environmental exposure cause idiopathic juxtafoveal retinal telangiectasia?

The underlying cause of idiopathic juxtafoveal retinal telangiectasia (IJT) is not known. To our knowledge, no specific environmental factors or exposures have been proven to cause IJT. However, it is possible that they play a role in its development. More research about possible genetic and environmental factors that may predispose people to this condition is needed.
Last updated: 2/10/2014

We hope this information is helpful. We strongly recommend you discuss this information with your doctor. If you still have questions, please contact us.

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GARD Information Specialist

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  1. About Macular Telangiectasia (MacTel). The Lowy Medical Research Institute. http://www.lmri.net/mactel/macular-telangiectasia-mactel/. Accessed 5/3/2018.
  2. 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.
  3. 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/.
  4. Boyd K, Vemulakonda GA. What Is Macular Telangiectasia?. American Academy of Ophthalmology. April 27, 2018; https://www.aao.org/eye-health/diseases/macular-telangiectasia.
  5. 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.