Patient Finds Hope and Understanding
Genetic testing through My Retina Tracker not only identified the genes responsible for the patient’s retinitis pigmentosa, it also helped explain her family’s history of kidney disease.
A young woman, diagnosed at age 28 with retinitis pigmentosa (RP), was experiencing relatively rapid vision loss. Six months later the patient had full renal failure from polycystic kidney disease, and had an immediate kidney transplant. She has no family history of RP but her two brothers had both died young of kidney disease.
In search of her eye disease, she received genetic testing for her RP through Spark Therapeutics’ “ID Your IRD” genetic testing program, which focused on analyzing just 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 Spark’s new vision-restoring gene therapy called Luxturna. Spark, however, told her 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.
this genetic testing has answered questions for me that I never would have had otherwise.
The patient, who had not received genetic counseling with the first genetic test, was then referred to a genetic counselor. This counselor informed her that her retinal disease was not typical of RPE65 disease and was probably due to a different genetic cause. The counselor helped her find a different retina specialist who could enroll her 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 the patient said, “I was first told that genetic testing wasn't important for me. I found another doctor and found the Foundation’s study. And now look, this genetic testing has answered questions for me 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.”