When it comes to eye disease, your family matters. In fact, genetics play a role in several different eye diseases and conditions.
For infants and children, genetics are often to blame for congenital cataracts, congenital glaucoma and eye malformations, among other conditions. For adults, both glaucoma and age-related macular degeneration are likely inherited in most cases.
You can?t change the genes you inherit or the risks that come with them. But understanding those genes may help keep your eyes healthy.
As researchers identify the genes associated with eye diseases, they will be able to diagnose diseases earlier than ever. Earlier diagnosis means earlier treatment and better counseling for you and your family members.
?Our main goals for now are to provide the most precise diagnosis possible and to give counseling about the risks of these disorders in other family members,? says?Elias I. Traboulsi, MD,?Cole Eye Institute?pediatric ophthalmologist and Director of the?Center for Genetic Eye Diseases. ?Understandably, many people are quite interested in learning if any future children they might have would be affected. We try to provide them with as many answers to these questions as possible.?
Dr. Traboulsi also notes that, in the last few years, gene therapy for some inherited eye diseases has become a reality. ?Although this has been demonstrated for only one form of childhood retinal disease associated with mutations in the RPE65 gene, it is very likely that gene therapy will become available for other diseases in the near future,? he says.?
Dr. Traboulsi specializes in genetically determined conditions. He and other scientists and clinicians work to better understand the genetic mutations that cause diseases.
?We hope that one day this research can lead to gene therapy treatments that can help these patients improve their vision and the vision of their children and grandchildren,? says Dr. Traboulsi, who is one of the founders of the International Society for Genetic Eye Diseases and Retinoblastoma.
The Center for Genetic Eye Diseases operates a monthly retinal dystrophy clinic, dedicated to providing patients and their families with treatment and genetic counseling services. Patients who qualify may also have the opportunity to participate in?clinical trials.
If you are concerned about an inherited eye disorder in your family, ask your ophthalmologist, pediatrician, geneticist or family doctor for a referral to the Center for Genetic Eye Diseases for a specialized evaluation, testing and diagnosis.
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