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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What causes idiopathic juxtafoveal retinal telangiectasia?
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

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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.