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Genetics of Macular Degeneration

Genetics plays an important role in the development of age-related macular degeneration. We studied gene variations in a large group of elderly women. 

We sought to determine whether single nucleotide polymorphisms in the estrogen receptor alpha (ESR1) and matrix metalloproteinase 2 (MMP2) genes are associated with age-related maculopathy (ARM) in older women. In a collaborative a study published in 2008 in the American Journal of Epidemiology, we found the MMP2 rs2287074 single nucleotide polymorphism (G/A) was associated with ARM. The A allele was present in 47%, 43%, and 30% of subjects with no, early, and late ARM, respectively (p 1⁄4 0.01), and was associated with lower odds of any ARM (for AG vs. GG, odds ratio 1⁄4 0.80, 95% confidence interval: 0.65, 0.99; for AA vs. GG, odds ratio 1⁄4 0.64, 95% confidence interval: 0.42, 0.98). An interaction with use of postmenopausal hormone therapy was significant (p 1⁄4 0.02). The MMP2 rs2287074 A allele may be associated with a lower likelihood of ARM in older Caucasian women, particularly those who have never used hormone therapy. The role of MMP2 rs2287074 in ARM should be further elucidated.


Advanced diagnosis and treatment to save central vision.


Oct 16 2019 | Posted In: 20/20 Blog
Palo Alto, CA — A gene therapy clinical trial for Dry Age Related Macular Degeneration (AMD) is beginning at the Byers Eye Institute under the direction of Vinit Mahajan M.D., Ph.D., associate professor and Vice Chair for Research in Ophthalmology. The trial is in partnership with Gyroscope, an ...
Oct 14 2019 | Posted In: 20/20 Blog
Palo Alto, CA – Dry macular degeneration is a common eye condition that usually occurs in people over 50. It is characterized by blurring of the central vision along with a decreased ability to see colors and fine details. Although it does not impact peripheral vision, it can impact every day...
Jun 21 2011 | Posted In: 20/20 Blog, Press
Researchers have found the existence of a new, rare inherited retinal disease. Now the search is on to find the genetic cause, which investigators hope will increase understanding of more common retinal diseases. The findings appeared in the Nov. 9 issue of the Archives of Ophthalmology. The macula...


Bevacizumab injection in patients with neovascular age-related macular degeneration increases angiogenic biomarkers, Cabral, Thiago, Lima Luiz H., Mello Luiz Guilherme, Polido Júlia, Correa Éverton P., Oshima Akiyoshi, Duong Jimmy, Serracarbassa Pedro, Regatieri Caio V., Mahajan Vinit B., et al. , Ophthalmology Retina, Volume 2, p.31–37, (2018)
Structural modeling of a novel SLC38A8 mutation that causes foveal hypoplasia, Toral, Marcus A., Velez Gabriel, Boudreault Katherine, Schaefer Kellie A., Xu Yu, Saffra Norman, Bassuk Alexander G., Tsang Stephen H., and Mahajan Vinit B. , Molecular genetics & genomic medicine, Volume 5, p.202–209, (2017)
Retinal and choroidal angiogenesis: a review of new targets, Cabral, Thiago, Mello Luiz Guilherme, Lima Luiz H., Polido Júlia, Regatieri Caio V., Belfort Rubens, and Mahajan Vinit B. , International journal of retina and vitreous, Volume 3, Number 1, p.31, (2017)