LHON is a rare disease (1 in 50,000) and affects predominantly young adult males. The disease leads to sudden vision loss in one eye within a matter of weeks which extends to the other eye a few months later. There is no treatment or cure for LHON.
The disease is connected to an optic nerve dysfunction and is due to mutations in some of the genetic pool transferred from the mother to her child. This genetic information is contained in what is called a mitochondria.
LHON is marked by degeneration of retinal ganglion cells (RGCs) and their axons, which are cells located in the retina (back of the eye) and are usually used to transmit light signals into the brain. LHON has a mean age of onset between 18 and 35 years. Vision loss is either sudden, leading to acuity lower than 20/400 in less than a week, or progressive over 2 or 3 months. Although visual loss is usually the only manifestation, LHON is also associated with cardiac, neurological or skeletal abnormalities.The optic atrophy is linked to certain mutations in the genetic information (mtDNA) of the mitochondria. More than 15 mtDNA mutations have been observed in LHON and although not all lead to visual dysfunction, at least five have been identified to induce the disease: the major primary mtDNA mutations involve genes of the respiratory chain of the mitochondria, in particular, genes for complex I and III. Other mutations, epigenetics or other toxic factors might also modify the evolution and clinical expression of LHON.
Alkeus Pharma is committed to searching and developing cures or treatments for serious ophthalmic conditions and is developing a novel therapeutic approach which could potentially benefit patients with LHON. Most information on this development is currently confidential.
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