The center is the only one of its kind in the region, positioning the Jones Eye Institute as a leader nationally in merging medical genetics into ophthalmologic care.
Why a Center?
When one considers that within 10 – 15 years the number of patients with serious ocular conditions will double due to a major increase in our aging population, the timing for developing a Retinal and Ophthalmic Genetic Disorders Center seems ideal. The list of genetic defects leading to blindness is far from complete and we need to work to uncover new ones that can be targets for gene therapy. The National Eye Institute estimates the annual cost of vision impairment and eye disease to the nation is $68 billion.
During the past decade there has been a major expansion in the knowledge of retinal disorders and ocular genetics. These revelations coupled with new diagnostic and therapeutic strategies have provided exciting opportunities for the prevention of vision loss. Integrating medical genetics into ophthalmologic care will provide the best opportunity for rapid, accurate diagnosis, targeted therapies and counseling.
Ophthalmologists are often on the “front line” in evaluating individuals and families with such conditions. A greater knowledge of the clinical and molecular features of these disorders is important for accurate diagnosis, appropriate genetic counseling, and application of treatment strategies targeted at the individual’s diagnosis and genetic status. This knowledge can only be gained through continued research.
By studying individuals and families with hereditary eye disorders, we hope to gain a better understanding of the role these genes play in causing disease, which may lead to new methods of treatment directed at the specific cause of the disease. Genetics in Practice
What can I expect during a genetic center evaluation?
When you or your child is referred to the Center, a genetic eye disease specialist will work with you to diagnose the problem and plan follow-up and possible therapy.
The first step is a complete review of any medical records or test results available, whether performed at the Leland and Betty Tollett Retinal and Ocular Genetics Center or at another institution. Next, you will be asked about your personal and family medical history, with particular attention given to signs and symptoms of genetic disorders. The goal in this assessment is to help identify other family members who may be affected with similar problems. Patients undergo a comprehensive assessment of vision and eye movement, a slit-lamp examination for microscopic study of the eye, and an eye-pressure check. By using eye drops to dilate the pupils, the ophthalmologist can examine the lens, optic nerve and retina for abnormalities.
Using information from the eye examination and the general medical history and examination, the ophthalmologist and the geneticist together determine a diagnosis and treatment plan.Center ophthalmologists have the expertise to diagnose and offer advice on the treatment of genetic eye diseases. When additional expertise in specific eye problems is required, they call on other Jones Eye Institute specialists for a second opinion or consultation. Further specialized testing, including retinal photography, optical coherence tomography of the retina, and retinal electroretinography, may be done on the same day of the visit or on a different day.