Science is advancing
Today, there is an FDA- and EMA-approved gene therapy for an inherited retinal disease caused by biallelic variants in the RPE65 gene.1-3 Over 30 clinical trials are either completed or underway for different types of inherited retinal diseases, such as retinitis pigmentosa, X-linked retinitis pigmentosa (RP), Leber congenital amaurosis (LCA), achromatopsia (ACHM), Usher syndrome, and Stargardt disease.4
These trials explore the potential of gene therapy and several other technologies. The rise of innovative gene therapy and therapeutic interventions potentially marks the beginning of a new era in inherited retinal disease care.5
Science is advancing
Today, there is an FDA- and EMA-approved gene therapy for an inherited retinal disease caused by biallelic variants in the RPE65 gene.1-3 Over 30 clinical trials are either completed or underway for different types of inherited retinal diseases, such as retinitis pigmentosa, X-linked retinitis pigmentosa (RP), Leber congenital amaurosis (LCA), achromatopsia (ACHM), Usher syndrome, and Stargardt disease.4
These trials explore the potential of gene therapy and several other technologies. The rise of innovative gene therapy and therapeutic interventions potentially marks the beginning of a new era in inherited retinal disease care.5
Evolution of genetic testing
To date, more than 270 genes related to inherited retinal diseases have been identified6,7


RetNet, The Retinal Information Network,https://sph.uth.edu/retnet. Accessed September 2021, reproduced with permission, Stephen P. Daiger, PhD, and the Foundation Fighting Blindness. Text and format changes added by Janssen, Inc., with permission.
As science continues to advance uncovering more genes related to inherited retinal diseases, genetic testing technology also continues to evolve. In the past 10 years, approximately 100 new genes related to inherited retinal diseases have been discovered.6 Innovations in genetic testing empower you to more precisely confirm your patient’s diagnosis.
*Indicated for the treatment of patients with confirmed biallelic RPE65 mutation-associated retinal dystrophy.
Explore the latest clinical trials that are underway and be inspired by advancing science. Visit clinicaltrials.gov
Your one action today may save their vision tomorrow. Test or retest your patients’ genes to confirm their inherited retinal disease.