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Diseases Studied

The Rare Diseases Clinical Research Network is an NIH-funded research network of 20 active consortia or research groups working to advance treatment for diseases that are rare. Use the search tools on this page to find the diseases we currently study. You can reach out to the indicated consortia or research groups for more information on those diseases and studies underway.

This network focuses on clinical research and does not generally support clinical care outside of research activities. To learn about other rare diseases, please visit the Genetic and Rare Diseases Information Center (GARD), which is an NIH program that helps the public find reliable information about rare and genetic diseases. Their staff are specialists. Contact them at 1-888-205-2311 or email

All Diseases > Leber Hereditary Optic Neuropathy

Leber Hereditary Optic Neuropathy (LHON)

Alternative Names: Hereditary Optic Neuroretinopathy; Leber's Optic Atrophy

Disease Category: Mitochondrial Disorders

A rare, inherited disorder caused by genetic mutations in DNA of the mitochondria (specialized cell structures that produce energy). Because the mitochondrial DNA mutation is inherited from mothers, it is a maternally inherited disorder. This results in degeneration of the optic nerve that sends messages from the eyes to the brain, leading to progressive central vision loss in both eyes. Symptoms usually manifest in adolescence or adulthood, including loss of both color vision and visual acuity (sharpness). Male individuals are affected more frequently than females. The heart may show an extra electrical pathway between the atria (upper chambers) and ventricles (lower chambers).

Research groups studying this disease

Mitochondrial Disorders
NAMDC logo

North American Mitochondrial Disease Consortium (NAMDC)

Improves quality of life for people affected by mitochondrial disease through education, outreach, advocacy, and clinical research initiatives.

Promotes research and education for the diagnosis, treatment, and cure of mitochondrial disorders while providing support to those affected.