Learn About Leber Hereditary Optic Neuropathy (LHON)
Leber hereditary optic neuropathy (LHON) is an inherited form of vision loss. Although this condition usually begins in a person's teens or twenties, rare cases may appear in early childhood or later in adulthood. For unknown reasons, males are affected much more often than females.
Mutations in the MT-ND1, MT-ND4, MT-ND4L, or MT-ND6 gene can cause LHON. These genes are found in the DNA of cellular structures called mitochondria, which convert the energy from food into a form that cells can use. Although most DNA is packaged in chromosomes within the nucleus, mitochondria also have a small amount of their own DNA, known as mitochondrial DNA or mtDNA.
The prevalence of LHON in most populations is unknown. It affects 1 in 30,000 to 50,000 people in northeast England and Finland.
LHON has a mitochondrial pattern of inheritance, which is also known as maternal inheritance. This pattern of inheritance applies to genes contained in mtDNA. Because egg cells, but not sperm cells, contribute mitochondria to the developing embryo, children can only inherit disorders resulting from mtDNA mutations from their mother. These disorders can appear in every generation of a family and can affect both males and females, but fathers do not pass traits associated with changes in mtDNA to their children.
Emory Eye Center
Valerie Biousse is an Ophthalmologist and a Neurologist in Atlanta, Georgia. Dr. Biousse has been practicing medicine for over 37 years and is rated as an Elite provider by MediFind in the treatment of Leber Hereditary Optic Neuropathy (LHON). Her top areas of expertise are Increased Intracranial Pressure, Pseudotumor Cerebri Syndrome, Papilledema, Optic Nerve Atrophy, and Embolectomy.
Valerio Carelli practices in Bologna, Italy. Mr. Carelli is rated as an Elite expert by MediFind in the treatment of Leber Hereditary Optic Neuropathy (LHON). His top areas of expertise are Leber Hereditary Optic Neuropathy (LHON), Optic Nerve Atrophy, Ganglion Cyst, Progressive External Ophthalmoplegia, and Liver Transplant.
Jules Stein Eye Institute Medical Group
Alfredo Sadun is an Ophthalmologist in Arcadia, California. Dr. Sadun is rated as an Elite provider by MediFind in the treatment of Leber Hereditary Optic Neuropathy (LHON). His top areas of expertise are Leber Hereditary Optic Neuropathy (LHON), Optic Nerve Atrophy, Papilledema, Vitrectomy, and Hormone Replacement Therapy (HRT).
Summary: This is a parallel arm non-randomized dose-escalation, open-label basket exploratory phase 1 clinical trial where Mitochondrial encephalopathy, lactic acidosis, stroke-like episodes (MELAS) and Leber's hereditary optic neuropathy-Plus (LHON-Plus) participants will undergo simultaneous enrollment in two disease-based arms and receive daily oral doses of glycerol tributyrate to assess its safety and...
Summary: Primary Mitochondrial diseases are a clinically and genetically heterogeneous group of disorders caused by mutations in genes encoded by nuclear Deoxyribonucleic Acid (DNA) or by mutations and/or deletions in the mitochondrial DNA (mtDNA). While some mitochondrial disorders only affect a single organ (e.g., the eye in Leber hereditary optic neuropathy \[LHON\]), many involve multiple organs. Mitoc...
Published Date: December 01, 2013
Published By: National Institutes of Health