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 38 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.
UPMC Vision Institute
Jose' Sahel is an Ophthalmologist in Pittsburgh, Pennsylvania. Dr. Sahel is rated as an Elite provider by MediFind in the treatment of Leber Hereditary Optic Neuropathy (LHON). His top areas of expertise are Retinopathy Pigmentary Mental Retardation, X-Linked Congenital Stationary Night Blindness, Cone-Rod Dystrophy, Retinitis Pigmentosa, and Vitrectomy. Dr. Sahel is currently accepting new patients.
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.
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: This study investigates a new technology to assess the structure and function inside the eye. Retinal imaging of subjects with inner and outer retinal defects to detect areas of abnormal structure and function compared to other visual function tests.
Published Date: December 01, 2013
Published By: National Institutes of Health