Leber’s Hereditary Optic Neuropathy (LHON)
Overview
Leber’s hereditary optic neuropathy (LHON) is a maternally transmitted disease caused by mitochondria DNA (mtDNA) mutation. Three primary mutations of mtDNA 11778, 14484, and 3460 encodes the NADH dehydrogenase subunit 4, subunit 6, and subunit 1 of Complex I of the respiratory chain, respectively, and underlie the main pathogenesis of LHON. The disease typically begins in young adulthood and predominantly affects males. Symptoms usually start in one eye and then progress to the other eye, causing painless vision loss, blurred vision, color vision deficiency, and central vision loss. There is no established medical treatment for LHON. However, the introduction of idebenone, a short chain synthetic benzoquinone, and ongoing gene therapy bring the light of therapy.
Features Summary
1.Vision loss: The hallmark feature of LHON is painless, rapid, and severe vision loss. The disease usually affects one eye first, and then the other eye within weeks or months. The vision loss can be partial or complete, and it typically affects central vision, making it difficult to see fine details
2.Age of onset: LHON usually begins in young adulthood, typically between the ages of 15 and 35 years. However, the age of onset can vary from childhood to late adulthood.
3.Gender: LHON is more common in males than females.
Inheritance: The disease is mostly caused by mutations in the mitochondrial DNA, which is inherited in a maternal pattern.
Procedure
1.We will arrange comprehensive ophthalmic examinations of both eyes, including best-corrected visual acuity, slit lamp examination, optical coherence tomography, fundus photographs and automated visual field testing. Demographic information, including age, gender, disease onset, family history, et al., will be collected.
2.If LHON is suspected, genetic testing may be needed to confirm the related pathogenic gene. Genomic DNA will be extracted from peripheral blood samples from patients.
Notification
We could provide some information of latest treatment, such as idebenone or ongoing clinical trials. However, there is currently no cure or treatment for LHON.
Figure. We arranged the supporting group of Leber’s hereditary optic neuropathy (LHON). Patients and their family learned the knowledge of LHON and shared the experience living with the disease. (Photos taken on August 7th 2021)
Estimated Cost
For estimated medical costs, please contact International Medical Services Center.