Neuro-ophthalmological disorders can affect only the visual system or be associated with additional neurological symptoms. These disorders affect the optic nerve and other neurological structures responsible for transmitting the nerve impulse from the retina to the brain and are characterized by moderate to severe vision loss.
Leber Hereditary Optic Neuropathy (LHON) is a mitochondrial disorder with a progressive visual loss due to optic neuropathy. It has a maternal inheritance.
The DBGen Neuro-ophthalmological Disorders Panel studies 95 genes causing the most frequent neuro-ophthalmological pathologies, and mutations in mitochondrial DNA associated with Leber’s Hereditary Optic Neuropathy (LHON).
12 – 14 weeks
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Genetic diagnosis laboratory authorized by the Department of Health of the Government of Catalonia – E08709630