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 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...
متن کاملChildhood-onset Leber hereditary optic neuropathy.
BACKGROUND The onset of Leber hereditary optic neuropathy (LHON) is relatively rare in childhood. This study describes the clinical and molecular genetic features observed in this specific LHON subgroup. METHODS Our retrospective study consisted of a UK paediatric LHON cohort of 27 patients and 69 additional cases identified from a systematic review of the literature. Patients were included i...
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ژورنال
عنوان ژورنال: Current Opinion in Ophthalmology
سال: 2017
ISSN: 1040-8738
DOI: 10.1097/icu.0000000000000410