Linked Life Data

19756638

Source:http://linkedlifedata.com/resource/pubmed/id/19756638

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
9
pubmed:dateCreated
2009-10-7
pubmed:abstractText
Hereditary optic neuropathies are caused by mutations either in the nuclear or mitochondrial genome and lead to retinal ganglion cell death mediated by reduced oxidative phosphorylation, fragmentation of the mitochondrial network, and increased sensitivity to apoptosis. Nuclear mutations result in autosomal dominant optic atrophy, autosomal recessive optic atrophy, or X-linked recessive optic atrophy, whereas mitochondrial mutations result in Leber's hereditary optic neuropathy, which is maternally inherited. A tentative diagnosis of a hereditary optic neuropathy can usually be made on the grounds of a thorough patient and family history, visual field and color vision tests, and a detailed assessment of the optic nerve head. The rarity of hereditary optic neuropathies makes it difficult to include these disorders in the differential diagnosis. Molecular genetic testing of a blood DNA sample should be performed on every patient, with implications for future genetic counseling and prediction of the disease course.
pubmed:language
ger
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
1433-0423
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
106
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
845-57
pubmed:meshHeading
pubmed:year
2009
pubmed:articleTitle
[Hereditary optic atrophies].
pubmed:affiliation
Universitäts-Augenklinik Freiburg, 79106 Freiburg. charlotttte.poloschek@uniklinik-freiburg.de
pubmed:publicationType
Journal Article, English Abstract