The importance of retesting
To date, more than 270 inherited retinal disease–related genes have already been identified.3 This gene identification, combined with advances in genetic testing, has increased the diagnostic yield for patients with inherited retinal diseases.2,4
Science is always advancing. As genetic testing options continue to advance, patients who do not know their underlying genetic diagnosis may benefit from retesting. While a gene variant may have been classified to be “uncertain” a few years ago, that same variant may be reclassified as either benign or pathogenic today.2,5
Another reason to retest is that effective gene therapy relies on the presence of viable target cells. Early identification of inherited retinal diseases in your patients allows them to be potentially eligible for available therapies and clinical trials.6
of people with inherited retinal diseases view genetic testing as a positive step toward eye health1
Take action to confirm your patients’ inherited retinal diseases. Engage or reengage appropriate patients with a genetic test.