Leber Hereditary Optic Neuropathy (LHON) is a rare disease that causes sudden, irreversible loss of vision, often striking during adolescence or early adulthood. Patients with LHON quickly lose their ability to recognize faces, drive, and read, causing profound social, emotional, and financial burdens as they re-learn to navigate the world with severe visual impairment. Currently, there is no cure, and no therapeutics are available to reliably prevent, halt, or reverse the onset or progression of LHON vision loss.

LHON affects tens of thousands of people globally, with new cases emerging every day. Although the causes of LHON are generally known, its underlying mechanisms are only partially understood. LHON is classified as an optic neuropathy, a mitochondrial disease, and a neurodegenerative disorder, opening opportunities for research that could benefit from cross-disciplinary insights and potentially lead to multi-indication therapeutics.

However, LHON research has been constrained by inconsistent funding, hindering progress and making it difficult for researchers to transition from early discovery to clinical application. This Giving Smarter Guide, sponsored by LHON Collective and developed by the Milken Institute Science Philanthropy Accelerator for Research and Collaboration, provides a thorough review of the research, funding, and therapeutics landscapes for LHON. It also offers recommendations on where and how strategic investment could alleviate funding gaps and advance breakthroughs in research, therapeutics, and care.