Inherited retinal diseases are caused by mutations in many different genes. Currently, we estimate that mutations in over 200 genes can cause human retinal diseases, including retinitis pigmentosa, Leber congenital amaurosis, cone-rod degeneration, Stargardt disease, Best disease, and many more. An extensive research effort aiming to identify these genes was conducted over the last twenty year mainly in the American and European populations. However, only limited information is available on the genetics of retinal diseases in the Israeli population and only lately others and we identified the most common causes of retinal degenerations in the Israeli Jewish population.
Our group is interested in genetic characterization of retinal diseases in the Israeli and Palestinian populations and in molecular analysis of retinal development.
As part of this genetic study, patients with inherited ocular diseases are referred to the genetic laboratory and clinical information is collected. Most patients are diagnosed by Prof. Eyal Banin, MD PhD. A blood sample (3-5 ml) is drawn from patients and family members for the genetic research.
Our long range purpose is to identify the cause of inherited retinal diseases in the vast majority of Israeli patients with retinal degenerations and to use the genetic information aiming to develop therapeutic modalities, such as gene therapy.
