New findings from UC San Diego researchers highlight genetic factors behind age‑related macular degeneration.

AMD is the leading cause of vision loss in people over 60, affecting 10 million Americans. That is more than cataracts and glaucoma combined. Its genetic causes remain unclear, likely involving both hereditary and environmental factors. There is no cure.

In a CIRM‑funded study, UCSD researchers used stem cells to identify genetic elements that may explain the disease and point toward future treatments.

What is age-related macular degeneration

Before explaining the research, it helps to understand what AMD does. The disease attacks the retina, the thin tissue at the back of the eye. The retina receives light, converts it into electrical signals, and sends them to the brain to create visual images.

AMD destroys the macula, the part of the retina responsible for central vision. Vision first becomes blurred or fuzzy, and over time those with AMD lose central sight.

UCSD study

To understand why this happens, the UCSD team took skin samples from six people with AMD and used the To try and understand why this happens the team at UCSD took skin samples from six people with AMD and, using the iPSC method, turned those cells into the kinds of cell found in the retina. Because these cells came from people who had AMD they now displayed the same characteristics as AMD-affected retinal cells. This allowed the researchers to create what is called a “disease-in-a-dish” model that allowed them to see, in real time, what is happening in AMD.

to turn them into retinal cells. Because the cells came from people with AMD, they showed the same disease traits. This allowed the researchers to create a “disease‑in‑a‑dish” model and watch AMD develop in real time.

They identified a genetic variant that lowers production of VEGFA, a protein that promotes new blood vessel growth.

In a news release, Kelly Frazer, director of the Institute for Genomic Medicine at UCSD and lead author of the study, said the results were unexpected.

“We didn’t set out to study the VEGFA gene when searching for AMD’s genetic causes, but in samples from just six people, this variation clearly stood out as a causal factor.”

Frazer says this discovery, published in Stem Cell Reports, could lead to new ways of developing AMD treatments.

CIRM already funds one clinical‑stage project targeting AMD.