Gene–environment interactions in Leber hereditary optic neuropathy
نویسندگان
چکیده
منابع مشابه
Leber hereditary optic neuropathy.
BACKGROUND Leber hereditary optic neuropathy (LHON) is a cause of inherited blindness that typically presents with bilateral, painless, subacute visual failure in young adult males. Males are about four times more likely to be affected than females and 95% of LHON carriers become affected before the age of 50. Affected patients may have characteristic ocular fundal appearances and have evidence...
متن کاملLeber hereditary optic neuropathy
Leber hereditary optic neuropathy is a maternally inherited bilateral optic neuropathy that typically affects teenage males with acute vision loss first in one eye and then the other within days or weeks. The etiology involves a point mutation in the mitochondrial DNA at 1 of 3 main loci: 11778, 14484, or 3460. There are some distinctive changes in the ocular fundus appearance at various stages...
متن کاملGene–environment interactions in Leber hereditary optic neuropathy
Leber hereditary optic neuropathy (LHON) is a genetic disorder primarily due to mutations of mitochondrial DNA (mtDNA). Environmental factors are thought to precipitate the visual failure and explain the marked incomplete penetrance of LHON, but previous small studies have failed to confirm this to be the case. LHON has no treatment, so identifying environmental triggers is the key to disease p...
متن کاملLeber hereditary optic neuropathy and oxidative stress.
R elatively little progress has been made in developing therapies for mitochondrial diseases in modern medicine as a result of the exquisite complexity of the structural proteins and pathways associated with mitochondrial functions and our incomplete understanding of pathophysiology (1). Leber hereditary optic neuropathy (LHON), in particular, provides a unique model for understanding molecular...
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ژورنال
عنوان ژورنال: Brain
سال: 2009
ISSN: 1460-2156,0006-8950
DOI: 10.1093/brain/awp158