Patient Relieved to Learn She Did Not Damage Her Eyes
A diagnosis of Stargardt disease relieved her fear that her past use of anti-malarial medicine damaged her eyes.
A patient experienced sudden vision loss at age 20. Her primary care provider could not confirm the cause but identified three possibilities — a brain tumor, the consequences of an adverse outcome from her past use of an anti-malarial drug or an inherited retinal dystrophy. After a further clinical workup, she was clinically diagnosed with Stargardt disease but never offered genetic testing to confirm the diagnosis. A few years later, the patient underwent in vitro fertilization (IVF) to overcome a fertility issue and, despite receiving pre-implantation genetic diagnosis (PGD), did not receive a test for Stargardt disease at the time.
The patient, now age 44, was recently tested through My Retina Tracker® (MRT) and found to have two pathological ABCA4 variants, that confirmed her retinal disease as Stargardt disease. She was thrilled to have this genetic confirmation.
The patient expressed relief from guilt she had held for more than 20 years from her past use of anti-malarial medicine, which she still felt may have damaged her eyes. Moreover, the confirmation of an autosomal-recessive Stargardt disease reduced her fear that she may have passed her eye condition on to her son. While she is not planning to participate in a current clinical trial, she said that she will now follow clinical trial progress much more closely and consider participating in a later stage clinical trial in the future.