UCL Queen Square Institute of Neurology


Leber's Hereditary Optic Neuropathy

Medline NLM definition of Optic Atrophies, Hereditary: Hereditary conditions that feature progressive visual loss in association with optic atrophy. Relatively common forms include autosomal dominant optic atrophy and Leber hereditary optic neuropathy. The latter is a rare, maternal linked, genetic disorder that is characterized by progressive bilateral optic nerve degeneration. Male offspring are predominantly affected and develop a loss of central vision in the second or third decade of life. Retinal ganglion cells and optic nerve axons that subserve central vision degenerate. The disease is associated with missense mutations of mitochondrial DNA. In some pedigrees this condition is associated with DYSTONIA, sensory neuropathies, PRE-EXCITATION SYNDROMES, and other disorders.

Leber hereditary optic neuropathy: information from NORD, the National Organization for Rare Disorders (US site)

PubMed Medline search on Optic Neuropathy

Support Groups

Royal National Institute of Blind People (RNIB)
UK charity offering information, support and advice to over two million people with sight loss; with free information and leaflets, details of support groups, housing and housing services, benefits, education, employment.

Brain and Spine Foundation
Information on living with a neurological condition and on diagnosis. There are publications and resources. The useful glossary of neurological conditions (under 'Information and support') includes links to some other organisations as well as to Brain and Spine Foundation information.

Neurological Alliance
Collective voice for 80 organisations, including stroke and brain injury. Organisations are listed at https://www.neural.org.uk/our-members/, a good place to start if looking for information on those conditions. Site also includes information about living with a neurological condition, a glossary, and information about onset and diagnosis as well as a small set of real life stories.

NHS Inform: brain, nerves and spinal cord 
NHS inform is Scotland's national health information service, with the aim of providing the people in Scotland with accurate and relevant information to help them make informed decisions about their own health and the health of the people they care for.