Leber Hereditary Optic Neuropathy (LHON)

As individuals, we rely on sight more than any other sense to navigate the world. LHON is a rare disease that leads to sudden and irreversible loss of vision, typically in the pivotal years of adolescence and early adulthood. While coping with the emotional and social costs of sudden blindness, patients must also bear the financial burden associated with adaptive technologies, specialized training, accessibility modifications, rehabilitation, psychological support, reduced workforce participation, and changes in employment outlook. In the US alone, the broader economic impact of blindness surpasses $16,000 per patient per year.

While the genetic cause of LHON is generally understood, the mechanisms driving its progression have only partially been discovered. As an optic neuropathy, mitochondrial disease, and neurodegenerative disease, LHON presents opportunities to uncover shared and cross-cutting disease mechanisms. However, progress has been constrained by limited funding and the small size of the research and clinical communities. To transform the LHON therapeutic landscape for the LHON community will require a more expansive and coordinated effort to bridge these gaps and unlock the full potential of LHON research.