Leber's Hereditary Optic Neuropathy

Leber’s Hereditary Optic Neuropathy (LHON) is a rare genetic condition which may lead to permanent bilateral blindness. Currently, there is no cure for LHON.

LHON causes cells in the optic nerve to degenerate, leading to a loss of central vision. Vision loss may start in one eye, but eventually will affect the other eye. The vision loss is permanent, and there is little treatment available. Those affected by sudden blindness due to LHON are usually young adults.

People with LHON suffer from a genetic abnormality that damages their mitochondria. Mitochondria, often referred to as the “powerhouses” of cells, convert the calories we consume into energy we can use. With LHON, the mitochondria lose effectiveness and eventually signal the cells of the optic nerve to die. This happens disproportionately to males, and typically occurs around age 20. Only females can pass the condition to their children.

Doheny Eye Institute is one of the leading centers for research on LHON. Alfredo Sadun, MD, PhD, has led Doheny’s LHON research efforts for over 30 years. Dr. Sadun and his team have investigated the role of the mitochondria in LHON, and the optic nerve, to understand why its fibers die. They have studied LHON patients to understand their characteristics. They are currently testing an experimental compound called EPI-743 as a possible means of preventing vision loss in patients with LHON. Altogether, this work has greatly expanded our understanding of the disease, and put us closer to effective treatments.