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Bascom Palmer Eye Institute

Leber Hereditary Optic Neuropathy Gene Therapy Clinical Trial Preparatory Study Phase

Leber hereditary optic neuropathy (LHON) is a rare genetic eye disease that usually affects men between the age of twenty and forty but sometimes symptoms can occur at any age in men or women. LHON is inherited from the female (maternal) side of the family and causes permanent visual loss in young adults. The most common symptoms start with blurring or loss of vision in one eye that gradually worsens over a period of weeks. Within a few months the other eye is very likely to become affected, with both eyes suffering significant visual loss. Recently, Bascom Palmer faculty members published a paper in Proceedings of the National Academy of Sciences that details their LHON research.

Characterization of the hereditary nature of LHON led early researchers to postulate that it was a disorder of mitochondrial inheritance. Molecular analysis has confirmed that the basic etiology results from a point mutation in the mitochondrial DNA. Three primary mutations at nucleotide pair 3460, 11778, and 14484 are generally agreed to be the primary causes of LHON, accounting for a large majority of LHON cases. To date an effective treatment for LHON has not been identified.

LHON is a worthy target for mitochondrial gene therapy, and we are currently actively working on developing gene therapy for LHON.