12/17/2025
Leber’s hereditary optic neuropathy (LHON) is a maternally inherited mitochondrial disease that causes sudden, painless loss of vision. About 100 people experience the onset of LHON each year, and no one is too young or too old to become affected. The disease affects cells in your retina and optic nerve, called retinal ganglion cells.
In 1988, researchers at Emory University School of Medicine made a groundbreaking discovery using cell lines from the NIGMS Human Genetic Cell Repository at Coriell. Their findings demonstrated that a single base change in mitochondrial DNA results in LHON. This finding has affected all research moving forward on this disease and led to clinical gene therapy trials. One of the leading centers for LHON research and patient care sits right across the river from Coriell at the Wills Eye Hospital in Philadelphia.
Read more on our blog ➡ https://www.coriell.org/1/About-Us/Press-Room/Coriell-Blog/2025/12/01/How-Coriells-Cell-Lines-Drive-Breakthrough-Research-on-Lebers-hereditary-optic-neuropathy-