One of the most common issues in IRDs is the difficulty in diagnosis and clinical overlap. For IRD patients, genetic testing can provide a definitive diagnosis by knowing the underlying genetic cause of the disease. Knowing the specific mutation(s) involved could benefit patients and their family.
IRD genetic testing
- Genetic testing may identify affected family members and can inform the patient if there is a risk of passing the disease down to children or grandchildren.
- Genetic testing can provide a more accurate prognosis which could help the patient with planning their life and finding the most adapted support for his/her needs such as specialized services, training for visually impaired individuals but also social and psychological support.
- Research into IRDs is increasing and numerous potential treatments are now being investigated. Genetic testing could identify opportunities for clinical trial participation and/or may allow access to novel approved therapies.
Nowadays, access to genetic testing remains highly variable across different regions. (Xhao, et al. 2021; Black, et al. 2021) In the USA, the MyRetinaTracker program helps more and more patients to get an accurate diagnosis and has the potential to change patient journey (Xhao, et al. 2021). MyRetinaTracker is a test specifically targeted to the IRDs. The test can be ordered by a healthcare professional via Genetic testing for My Retina Tracker Program | Blueprint Genetics. Patients can do the saliva test remotely and can receive genetic counseling through InformedDNA to review their results.
For a patient, the decision for genetic testing is important and requires guidance from an IRD specialist and a genetic counselor. If you need more information about genetic testing for a patient, reach out to us or an IRD specialist in your country.
Genetic disorders, inherited retinal diseases and genetic testing explained
A video by Isabelle Audo, MD, PhD
IRD patient journey explained
A video by Ramiro Maldonado, MD
Professor Isabelle Audo, MD, PhD is a clinician scientist working both as a professor at the Quinze-Vingts Hospital and as a group leader in the Department of Genetics at the Vision Institute (Institut de la Vision) in Paris, France. Her areas of expertise are medical retina, inherited retinal diseases both for clinical and molecular diagnosis, research in retinal physiopathology, visual function explorations with clinical electrophysiology, imaging techniques and clinical trials. Pr. Audo went to medical school at Paris XI University where she received her M.S. degree in Immunology. She completed a residency program in Lille (North of France) from 1994 to 1997, where she became particularly interested in surgical and medical retina, especially in retinal dystrophies and clinical visual electrophysiology. Following her residency, she earned a Masters degree at Louis Pasteur University in Strasbourg, France with Pr. Sahel, and then in 1998, earned her M.D. Pr. Audo completed a research fellowship from 1999 to 2003 at the Department of Ophthalmology and Visual Sciences, University of Madison, Wisconsin, with Pr. Albert, and earned her Ph.D. She then completed a medical retina fellowship at the Moorfields Eye Hospital with Prs Alan Bird and Graham Holder followed by a Master degree in genetics. Pr. Audo has co-authored more than 100 scientific papers through her research in inherited retinal diseases.
Ramiro S. Maldonado, MD, is Assistant Professor of Ophthalmology at Shriners UK Advances Eye Care at the University of Kentucky. Dr. Maldonado treats inherited retinal diseases as well as common retinal conditions, such as macular degeneration, diabetic retinopathy and vain occlusion. Dr. Maldonado completed a residency program in ophthalmology at Duke University Medical Center, Durham, N.C. Dr. Maldonado completed a fellowship in ophthalmic genetics and medical retina at the National Eye Institute (NEI), Bethesda, Md. Dr. Maldonado has co-authored many scientific papers through his research in medical retina and inherited retinal diseases.
The next resource module is about intravitreal injection, a common route of delivery of ocular medicine which is used for ProQR's RNA therapies.See next module