Leber hereditary optic neuropathy: mitochondrial mutations and degeneration of the optic nerve

Vision Research
Neil Howell

Abstract

The predominant manifestation of Leber hereditary optic neuropathy (LHON) is a sudden and usually severe bilateral loss of central vision, most often in the mid-20s, that is due to a degeneration of the ganglion cell layer and optic nerve. LHON is an inherited form of blindness in which a mutation in the mitochondrial genome (mtDNA) is the primary etiological event. More than 95% of the LHON pedigrees in peoples of Northern European descent harbor one of the three mitochondrial mutations at nucleotides 3460, 11,778 and 14,484, although there are other rare primary mutations. In addition, there may be mtDNA mutations that have a secondary etiological role. The penetrance of the optic neuropathy is incomplete in LHON families, and males are affected much more often then females. The incomplete penetrance indicates that secondary etiological factors are necessary for the development of the optic neuropathy, although they are poorly understood at the present time. Several types of studies suggest that optic nerve function in LHON patients is impaired in the presymptomatic phase, probably as a result of a mitochondrial respiratory chain abnormality, although visual acuity is not compromised. In some family members, the presence of s...Continue Reading

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