Your doctor gives you a new diagnosis that you may have never heard of and tells you that your vision may be lost over time - what is your first thought?
Being diagnosed with anything is frightening. When your eyesight is at stake, it can bring about a whole range of emotions. Today, we are fortunate to have accessible clinical genetic testing for many inherited eye disorders, including those that cause progressive blindness. This testing can help identify the gene change that causes the disease in an individual or family. After genetic testing, there may be clinical trials or gene-based therapies that are available to the patient. Research in this area has been highly successful, and many patients are eager to join clinical trials to expand the knowledge of their disease - if not always for themselves - for their families and others. There are also FDA-approved gene therapies available for certain genetic eye diseases, bringing cutting-edge precision medicine to treatment. Genetic testing can be a crucial part in identifying the most successful treatment plan for an individual, as well as giving a more accurate prognosis and information for inheritance in the family.
One category of rare eye disorders are retinal dystrophies, which are disorders that affect the retina, can present with different symptoms, and can be caused by changes in several different genes (Reviewed in PMID: 26835369). Common presentations include night or color blindness, tunnel vision, and subsequent progression to blindness. Vision loss can occur anywhere from early infancy to late adulthood with varying rates of progression. There can be different patterns of inheritance in families, including sporadic cases. Changes within the same gene have been shown to cause different symptoms and severity, even among affected individuals within the same family, which can make diagnosis difficult. Retinal dystrophies can be associated with other medical issues or isolated to vision problems. Some examples of retinal dystrophies are retinitis pigmentosa (RP), Leber congenital amaurosis (LCA), and choroideremia, and others with syndromic features are Usher syndrome, Bardet-Biedl syndrome, Joubert syndrome, Senior-Loken syndrome, Cohen syndrome and Alström syndrome.
How to get genetic testing:
- Get a Clinical Eye Exam. Try to find a doctor who specializes in retinal disease. Based on the eye examination, medical history, and family history, the ophthalmologist and the referring physician together determine a diagnosis and treatment plan. Sometimes, genetic testing can help confirm a suspected diagnosis and possible treatment. This website resource can help identify a specialist in your area. https/www.asrs.org/find a specialist
- Meet with a Genetic Counselor. They can help determine the best test and laboratory to order from and explain what the results mean for you and your family.
- Submit a blood or saliva sample. Many laboratories can help with precertification of insurance and out-of-pocket costs. Financial assistance may be available if insurance does not cover the cost of testing. There are also sponsored genetic testing programs that can provide genetic testing at no cost for individuals who qualify based on their diagnosis.
My Retina Tracker Program
The Foundation Fighting Blindness, in partnership with Blueprint Genetics, a Quest-affiliated laboratory, and InformedDNA®, offers an open access, no-cost genetic testing program. This program is for individuals with a clinical diagnosis of an inherited retinal degeneration (IRD) living in the United States and US territories.
The program offers patients with IRD a high-quality panel targeting relevant genes. Unique features of the panel include the entire mitochondrial genome, full RPGR coverage, high-resolution copy number variant detection, and comprehensive coverage of IRD-related non-coding variants. Genetic counseling is also provided with the program to help the individuals navigate the sometimes murky waters of a new, rare diagnosis, and understand how this information may impact them and their family.
Although it is not required for participation, this program offers an easy opportunity to join the My Retina Tracker Registry. This gives individuals the opportunity to contribute to research and development, and the opportunity of being contacted about relevant clinical trials.
Patients can help facilitate this testing by encouraging their doctor to get in touch with the laboratory to easily order testing. Genetic testing can be empowering for the patient, as well as the clinicians serving the patient.
For more information on genetic testing and the no-cost My Retina Tracker Program, please visit www.blueprintgenetics.com
