Innovative therapies welcome new possibilities

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

A line graph showing identified retinal disease genes increasing from 0 in January 1988 to 270 in January 2018.

RetNet, The Retinal Information Network, 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.

Over 30 clinical trials are either completed or underway3,4,8-11

  • More than 30 active clinical trials for inherited retinal diseases

  • US FDA approves first gene therapy for an inherited retinal disease*

  • Gene therapy for achromatopsia (ACHM) starts

  • Gene therapy trial for Usher syndrome starts

  • Gene therapy trials for retinitis pigmentosa (RP) and choroiderma (CHM) start

  • Gene therapy trials for Leber congenital amaurosis (LCA) start

  • First gene therapy applications in humans

*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

Breakthrough science in eye care

Novel gene therapy trials are underway for a wide range of inherited retinal diseases, and more are on the horizon. Retinal specialists may soon have effective treatment options in their armamentarium.1 There are several approaches to gene therapies under investigation, such as:

Gene replacement therapy, also known as augmentation therapy, works by inserting normal copies of the mutated gene into the host cells5

Gene editing corrects the gene variant directly within the host DNA12

RNA editing edits the RNA, not the DNA. This enables the editing of pathogenic variants at a transcript level12

Female doctor and female patient looking at papers on a table with the doctor speaking

Your one action today may save their vision tomorrow. Test or retest your patients’ genes to confirm their inherited retinal disease.