Non‐OPA1 genetic causes of dominant optic atrophies
نویسندگان
چکیده
منابع مشابه
The Hereditary Optic Atrophies
There are a number of hereditary conditions in which optic atrophy may be a feature. These include skeletal conditions such as cranio-stenosis, some of the phakomatoses, congenital glaucoma and so on. In these conditions the optic atrophy is the result of a fairly obvious mechanism such as optic nerve compression, the effects of intraocular pressure on circulation in the nerve head or optic atr...
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Optic nerve hypoplasia (ONH) is the most common congenital optic nerve anomaly and a leading cause of blindness in the USA. Although most cases of ONH occur as isolated cases within their respective families, the advancement in molecular diagnostic technology has made us realise that a substantial fraction of cases has identifiable genetic causes, typically de novo mutations. An increasing numb...
متن کاملNo evidence of genetic heterogeneity in dominant optic atrophy.
Autosomal dominant optic atrophy (OPA, MIM 165500) is an eye disease causing a variable reduction of visual acuity with an insidious onset in the first six years of life. It is associated with a central scotoma and an acquired blue-yellow dyschromatopsia. A gene for dominant optic atrophy (OPA1) has recently been mapped to chromosome 3q in three large Danish pedigrees. Here, we confirm the mapp...
متن کاملDominant optic atrophy
UNLABELLED DEFINITION OF THE DISEASE: Dominant Optic Atrophy (DOA) is a neuro-ophthalmic condition characterized by a bilateral degeneration of the optic nerves, causing insidious visual loss, typically starting during the first decade of life. The disease affects primary the retinal ganglion cells (RGC) and their axons forming the optic nerve, which transfer the visual information from the pho...
متن کاملA recurrent deletion mutation in OPA1 causes autosomal dominant optic atrophy in a Chinese family
Autosomal dominant optic atrophy (ADOA) is the most frequent form of hereditary optic neuropathy and occurs due to the degeneration of the retinal ganglion cells. To identify the genetic defect in a family with putative ADOA, we performed capture next generation sequencing (CNGS) to screen known retinal disease genes. However, six exons failed to be sequenced by CNGS in optic atrophy 1 gene (OP...
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ژورنال
عنوان ژورنال: Acta Ophthalmologica
سال: 2019
ISSN: 1755-375X,1755-3768
DOI: 10.1111/j.1755-3768.2019.8175