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 GARDinfo@nih.gov.
All Diseases > Leber hereditary optic neuropathy-plus
Leber hereditary optic neuropathy-plus (LHON-Plus)
Disease Category: Mitochondrial Disorders
A rare, inherited disorder that combines central vision loss in both eyes with other neurological and/or systemic abnormalities. Genetic mutations in the DNA of mitochondria (specialized cell structures that produce energy) result in degeneration of the optic nerve that sends messages from the eyes to the brain. Symptoms include blurry or cloudy vision, loss of both color vision and acuity (sharpness), poor coordination, numbness, tremors, movement disorders, irregular heartbeats, spasticity (muscle rigidity), spinal cord lesions, and generalized muscle weakness.
Research groups studying this disease
Mitochondrial Disorders
North American Mitochondrial Disease Consortium (NAMDC)
MitoAction
Improves quality of life for people affected by mitochondrial disease through education, outreach, advocacy, and clinical research initiatives.
United Mitochondrial Disease Foundation
Promotes research and education for the diagnosis, treatment, and cure of mitochondrial disorders while providing support to those affected.