My Retina Tracker, My Story

Susan, who was diagnosed at age 28 with retinitis pigmentosa (RP), was experiencing relatively rapid vision loss. Six months later, Susan had full renal failure from polycystic kidney disease and had an immediate kidney transplant. She has no family history of RP but her two younger brothers had both died young of kidney disease.

In search to learn more about her eye disease, Susan received genetic testing for her RP through a genetic testing program that focused on analyzing only 32 genes – mainly involved in early onset RP. One pathogenic RPE65 variant was identified. Her local retinal specialist said she probably had RPE65-disease and would qualify for a new vision-restoring gene therapy called Luxturna. However, she was told that she did not qualify. RP due to RPE65 is a recessively inherited disease and she would need to have two mutations in her genes to qualify.

Susan had not received genetic counseling with the first genetic test and was then referred to a genetic counselor. This counselor informed Susan that her retinal disease was not typical of RPE65 disease and was probably due to a different genetic cause. The counselor helped her connect with a different retina specialist who worked with her to find and enroll in the My Retina Tracker® (MRT) testing program. MRT provides a comprehensive test of 266 retinal disease genes. This time, her test came back with a clear diagnosis – two mutated copies of the NPHP1 gene, which is the cause of her RP – and is also known to cause kidney disease.

About her experience, Susan said, “I was first told that genetic testing wasn't important for me. I found another doctor and found the Foundation’s program. And now look, this genetic testing has answered questions for me and my family that I never would have had otherwise. I started out frustrated that I didn't qualify for gene therapy, but now I'm so grateful for everything I've learned about my disease. This has given me hope.”