The firsts in combatting vision loss in hereditary diseases

New Orleans, La. — There are over 350 varieties of eye diseases that can be inherited. Glaucoma, retinal degeneration, keratoconus, cataracts, and retinitis pigmentosa are some of these diseases connected to hereditary factors. Health professionals have developed a range of treatments for these diseases such as prescription glasses, and surgery. There are still many that don’t have cures and are unable to prevent vision impairment and blindness. Two novel studies presented this week at the Association for Research in Vision and Ophthalmology’s (ARVO) 2023 Annual Meeting in New Orleans, La. shared their discoveries that could potentially restore vision to two hereditary diseases.

Groundbreaking enzyme replacement treatment shows promise in first human study

Batten disease (neuronal ceroid lipofuscinosis, NCL) is a group of fatal inherited disorders that afflict the nervous system and brain. The body’s ability to recycle and remove lipids and protein is impacted causing them to build up in cells throughout the body. It often starts in childhood with symptoms gradually appearing as seizures, dementia, issues with movement, vision loss and death.  There are 13 types of Batten disease and are all caused by genetic mutations called CLN genes. Currently, there is no cure but an enzyme replacement therapy, cerliponase alfa, can slow the progression for a form of NCL caused by CLN2. Unfortunately, it doesn’t reduce the progression of blindness.

In the United Kingdom, Robert Henderson, MBBS, MD, FRCOphth, and a team of scientists executed the first intravitreal enzyme replacement research on humans. Children between the ages of five to nine with severe CLN2 Batten Disease and vision challenges were included. For 12 to 18 months, they were injected with a small amount of the enzyme in their right eye every eight weeks. They left their left eyes untreated to act as a baseline.

For the patients that didn’t have fast retinal thinning, their retinal volume remained stable. For those that displayed rapid retinal thinning, confirming active disease degeneration, the treatment slowed the pace of retinal volume loss compared to their left untreated eye. Henderson explained “In demonstrating that enzyme replacement, through intravitreal injection of the recombinant pro enzyme cerliponase alfa, slows the rate of retinal thinning in this blinding disease, we have opened the door to a new field of retinal therapeutics for previously blinding conditions.”

  • Abstract title: Intravitreal Cerliponase alfa slows the rate of retinal thinning in patients with CLN2 type Batten Disease: A first in man report
  • Presentation start/end time: Sunday, April 23, 12:00 – 1:45pm CT 
  • Location: Exhibit Hall
  • Presentation number: C0389

Researchers reverse vision loss in glaucomatous mice using epigenetic therapy

The most common form of damage to the optic nerve that leads to vision loss is glaucoma. Most of the time, this damage is caused by fluid buildup in the front of the eye. It also leads to gradual deterioration of retinal ganglion cells (RGCs), neurons in the retina with the main function of receiving visual information and sending it to the brain. RGC axons form the optic nerve and suffer damage as well.

Lead researcher Yuancheng Ryan Lu, PhD, and scientists from four research institutions based in Mass. previously developed a new form of gene therapy “using three reprogramming factors Oct4, Sox2, and Klf4 (OSK)” that could reverse RGC aging in mice. This revivifying effect could help the retina recover lost functions from aging such as sensory perception and axon regeneration. Thus, in this first time long-term functional tracking study, they treated mice with glaucoma with their gene therapy, in vivo epigenetic reprogramming, to evaluate whether it would restore vision and if it could be a potential treatment for humans.

Lu, together with Margarete Karg from Bruce Ksander’s Lab injected “doxycycline (Dox) inducible OSK vectors” into the eyes of glaucomatous mice and OSK can be induced via Dox in the drinking water. Healthy non-glaucomatous mice were included in the study to compare results between the glaucomatous mice for a year. Within eight weeks, vision was completely restored to the mice that had undergone the gene therapy treatment. Even when Dox treatment was stopped, the corrected vision stayed better than the untreated baseline.

“In this study we showed that the once lost vision in glaucoma can be sustainably recovered safely.” Lu shared, “This indicated that in vivo epigenetic reprogramming holds great therapeutic potential in humans, not only for glaucoma but also for eye injuries (e.g., NAION) and other age-related eye diseases (e.g., age-related macular degeneration).”

This work was funded by Life Biosciences, a company aiming to bring this technology to patients. 

  • Abstract title: Epigenetic reprogramming to rejuvenate retinal ganglion cells and sustainably reverse glaucoma-induced vision loss
  • Presentation start/end time: Tuesday, April 25, 12:45 – 1:00pm CT
  • Location: R04-R05
  • Presentation number: 2841


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

Media contact:
Jenniffer Scherhaufer