Leber's hereditary optic neuropathy


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Related to Leber's hereditary optic neuropathy: Leber's congenital amaurosis

Leber's hereditary optic neuropathy

A rare genetic disease inherited from the mother caused by a point mutation in MITOCHONDRIAL DNA. Onset is usually about the 20th year and males are affected more often than females. It features changes in the small retinal blood vessels progressing to a degree of atrophy of the optic nerves in both eyes with a severe defect in visual acuity. In most cases a visual acuity of about 6/60-one tenth of normal-is retained. (T. von Leber, 1040–1917, German ophthalmologist and professor of ophthalmology at Heidelberg).
References in periodicals archive ?
A snapshot of the global therapeutic scenario for Leber's Hereditary Optic Neuropathy (LHON) (Leber optic atrophy).
About Leber's Hereditary Optic Neuropathy (LHON) Patients suffering from LHON typically have one of three different point mutations of the genetic code within the mitochondria, the energy-producing centers in each cell.
Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy.
Wallace and his colleagues discovered that people suffering Leber's hereditary optic neuropathy (LHON) have a defect in one mitochondrial gene that codes for a protein involved in the first step of ATP production.
Following positive clinical results in Leber's Hereditary Optic Neuropathy, the drug is prepared for regulatory filings for marketing approval.
Leber's hereditary optic neuropathy (LHON) can be triggered by nucleoside reverse transcriptase inhibitors in HIV-infected patients who harbour the LHON mutations.

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