Leber hereditary optic neuropathy harboring a rare m.12811 T>C mitochondrial DNA mutation
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چکیده
منابع مشابه
leber hereditary optic neuropathy: do folate pathway gene alterations influence the expression of mitochondrial dna mutation?
background: leber hereditary optic neuropathy (lhon) is an inherited form of bilateral optic atrophy leading to the loss of central vision. the primary cause of vision loss is mutation in the mitochondrial dna (mtdna), however, unknown secondary genetic and/or epigenetic risk factors are suggested to influence its neuropathology. in this study folate gene polymorphisms were examined as a po...
متن کاملMitochondrial DNA haplogroup distribution within Leber hereditary optic neuropathy pedigrees.
L eber hereditary optic neuropathy (LHON; OMIM #535000) is a mitochondrial genetic disease that causes blindness in young adults, with an estimated minimum prevalence of 3.2 per 100 000 in the north east of England. It classically presents as bilateral subacute loss of central vision due to the focal neurodegeneration of the retinal ganglion cell layer. Over 95% of cases are principally due to ...
متن کاملLeber 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 کاملAtypical presentation of Leigh syndrome associated with a Leber hereditary optic neuropathy primary mitochondrial DNA mutation.
Leber hereditary optic neuropathy (LHON) is caused by point mutations in mitochondrial DNA (mtDNA), and is characterized by bilateral, painless sub-acute visual loss that develops during the second decade of life. Here we report the case of a five year old girl who presented with clinical and neuroradiological findings reminiscent of Leigh syndrome but carried a mtDNA mutation m.11778G>A (p.R34...
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ژورنال
عنوان ژورنال: Canadian Journal of Ophthalmology
سال: 2021
ISSN: 0008-4182
DOI: 10.1016/j.jcjo.2020.12.022