A Vision for the Future of Sight

JAX researchers are shedding light on the mechanisms of eye diseases such as glaucoma and macular degeneration, as well as Alzheimer’s and other neurodegenerative diseases – treating the eye as a window to the brain.

  • The World Health Organization estimates that approximately 39 million people worldwide are blind, and approximately 285 million are visually impaired.
  • While trauma and infection can cause impairment, most human eye diseases in developed countries are chronic disorders involving retinal neurodegeneration (loss to nerve cells found in a structure in the back of the eye, called the retina), with a genetic component.
  • Such disorders have no curative treatment, partly because when diagnosed, the neurodegeneration has progressed to an irreversible stage. 

Meeting the challenge of ocular disease

In 2022, JAX received $2 million in philanthropic gifts from The Gordon and Llura Gund Foundation trustee Gordon Gund, who is co-founder, director, and chairman emeritus of the Foundation Fighting Blindness, and an anonymous donor in support of vision research at the Laboratory. The two donors met a “challenge grant” from The Diana Davis Spencer Foundation, which matched their gift with an additional $2 million to JAX. This brings the total philanthropic investment from JAX supporters for vision research to more than $7.6 million, which includes the Diana Davis Spencer Foundation’s 2020 donation of $2 million and their $1.5 million gift in 2018 to establish the Diana Davis Spencer Foundation Chair for Glaucoma Research at JAX.

The gifts fund the Laboratory’s scientific research and training activities in the field of neurodegenerative diseases of the eye, including graduate and postdoctoral fellowship training.

All eyes on Alzheimer’s disease research

If scientists can prove that retinal vessels in Alzheimer's decline in a similar fashion to brain cells, an eye exam could one day be used to identify those at risk of Alzheimer's disease before dementia-like symptoms develop.

The retina’s interaction with the brain makes it a good and relatively accessible platform for studying neural development. 

JAX Professor Gareth Howell studies Alzheimer’s disease and holds the Diana Davis Spencer Foundation Chair for Glaucoma Research. His research has shown that there are several connections between Alzheimer's disease and glaucoma. In glaucoma, the clear fluid that flows continuously through the anterior chamber at the front of the eye doesn’t drain properly, leading to a buildup of pressure that can damage the optic nerve, leading to vision loss and blindness.

“We are looking at the eye as a window to the brain for diseases like Alzheimer's disease. We’re particularly interested in blood vessel health in the brain,” says Howell. “We hypothesize that in Alzheimer's retinal vessels may decline in a similar fashion to brain vessels. If proven, it would allow us to use retinal vessel health as a proxy for brain vessel health to identify those at risk of Alzheimer's disease before dementia-like symptoms develop.”

Shedding light on new treatments for vision

Over the past decade, JAX Professor Patsy Nishina and her colleagues have developed mouse models for translational vision research that are now available to the biomedical research community. Dozens of these mouse models carry genetic variants previously linked to retinal developmental or degenerative ocular disease.

JAX professor Martin Pera, an expert in human stem cell biology, will also utilize philanthropy for vision research. Pera is among a small group of researchers who pioneered the isolation and characterization of pluripotent stem cells from human germ cell tumors, studies that provided an important framework for the development of human embryonic stem cells.

In 2017, JAX scientists discovered that adding vitamin B3 to the diet of mice genetically prone to contracting glaucoma protected them from developing the retinal loss associated with blindness.