Evidence shows a need to monitor for retinal changes in patients undergoing specific eye gene therapies


Denver, Colo.—New research shows unexpected changes in the retina of some patients that received Food and Drug Administration (FDA) approved gene therapy. The study presented this week at the 2022 Association for Research in Vision and Ophthalmology (ARVO) Annual Meeting in Denver, Colo. chorioretinal atrophy following the administration of oretigene neparvovec-rzyl (VN)

Inherited retinal diseases (IRDs) a group of degenerative diseases that can lead to severe vision loss and blindness.RPE65-mediated retinal dystrophy, IRD caused by biallelic mutations in the RPE65 gene, is a serious recessive genetic disorder that eventually progresses to complete blindness. In December 2017, the FDA approved VN for the treatment of patients with biallelic RPE65 mutation associated IRD. This was the first directly administered gene therapy approved in the U.S. that targets a disease caused by mutations in a specific gene

A group of researchers from the University of Michigan, University of Cincinnati, University of Miami, University of California San Francisco, the Associated Retina Consultants, University of Colorado, the Children’s Hospital of Los Angeles, and the University of Southern California followed up on previous work in which chorioretinal atrophy after VN was identified by characterizing the subtypes of chorioretinal atrophy and measuring the atrophy growth rates in 20 eyes from 10 patients from 4 centers that had received VN. The subtypes of atrophy that were present were perifoveal (13 eyes) and nummular (11 eyes). Atrophy was also noted at the surgical touchdown sites in 8 eyes. There was a trend toward the rate of atrophy growth being fastest with perifoveal atrophy and slowest with touchdown site atrophy.

"Chorioretinal atrophy develops infrequently after subretinal injection of voretigene neparvovec-rzyl, manifesting in three different patterns and growth rates,” said first author Nikhil Bommakanti, MD. “Atrophy progression appears to be mathematically distinct from other causes of macular atrophy such as age-related macular degeneration, suggesting a unique mechanism and demonstrating the need for close observation with other gene therapies using adeno-associated virus (AAV) vectors."

  • Abstract title: Classification and growth rate of retinal atrophy after voretigene neparvovec-rzyl for RPE65-mediated retinal dystrophy
  • Presentation start/end time: Sunday, May 1, 4:27 – 4:44pm MT
  • Location: Four Seasons Blrm 1 (Denver Convention Center)
  • Also available on the virtual meeting site at beginning May 11
  • Abstract Number: 456


The Association for Research in Vision and Ophthalmology (ARVO) is the largest eye and vision research organization in the world. Members include approximately 10,000 eye and vision researchers from over 75 countries. ARVO advances research worldwide into understanding the visual system and preventing, treating and curing its disorders. Learn more at

The 2022 ARVO Annual Meeting will take place in Denver, Colo. from May 1 – 4 and virtually May 11 - 12. The Meeting is the premiere gathering of nearly 10,000 eye and vision researchers from around the world. During the Meeting, 4,800 abstracts will be presented on the latest basic and translational research in eye and vision science.

All abstracts accepted for presentation at the Annual Meeting represent previously unpublished data and conclusions. This research may be proprietary or may have been submitted for journal publication. Embargo policy: Journalists must seek approval from the presenter(s) before reporting data from paper or poster presentations. Press releases or stories on information presented at the ARVO Annual Meeting may not be released or published until the following embargo dates:

  • May 1: Official launch of presentations of all posters (both presented in-person and virtually)
  • Rolling basis: Paper session, Symposia, Minisymposia, Cross-sectional Groups, and invited speaker sessions that have specific presentation times will be embargoed until the end of those individual time slots.


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Jenniffer Scherhaufer