Dominant optic atrophy: correlation between clinical and molecular genetic studies
نویسندگان
چکیده
منابع مشابه
Clinical features, molecular genetics, and pathophysiology of dominant optic atrophy.
Inherited optic neuropathies are a significant cause of childhood and adult blindness and dominant optic atrophy (DOA) is the most common form of autosomally inherited (non-glaucomatous) optic neuropathy. Patients with DOA present with an insidious onset of bilateral visual loss and they characteristically have temporal optic nerve pallor, centrocaecal visual field scotoma, and a colour vision ...
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 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 کاملThe pupil in dominant optic atrophy.
PURPOSE To compare visual and pupil afferent function in dominant optic atrophy (DOA). METHODS Patients with DOA who belonged to families showing evidence of linkage to the locus on chromosome 3q28-qter were recruited from the Moorfields Genetic Register. Patients and healthy control subjects underwent visual and pupil perimetry using a modified automated perimeter (Octopus 1-2-3; Interzeag, ...
متن کاملCLINICAL SCIENCE Optic disc morphology of patients with OPA1 autosomal dominant optic atrophy
Background/aims: Patients with autosomal dominant optic atrophy (ADOA) are genetically heterogeneous, but all have disc pallor. A degree of cupping in ADOA can make the distinction from normal tension glaucoma (NTG) clinically difficult. This study aimed to clarify the features of the optic nerve of patients with ADOA at the OPA1 locus. Methods: 29 patients (58 eyes), from 12 families, were ide...
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ژورنال
عنوان ژورنال: Acta Ophthalmologica Scandinavica
سال: 2005
ISSN: 1395-3907
DOI: 10.1111/j.1600-0420.2005.00448.x