Genomics and the Eye

Sheffield, Val C.; Stone, Edwin M.
May 2011
New England Journal of Medicine;5/19/2011, Vol. 364 Issue 20, p1932
Academic Journal
The article discusses mendelian and complex ophthalmic disorders and their implications for genetic testing and therapeutic intervention. It illustrates the pathophysiological mechanisms involved in three monogenic eye disorders, which are Stargardt's disease, autosomal dominant juvenile-onset primary open-angle glaucoma and Bardet� Biedl syndrome (BBS). Meanwhile, it says that disorders with complex inheritance result from the interaction of multiple genetic loci and environmental factors such that a mendelian inheritance pattern is not observed.


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