منابع مشابه
Dominant 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 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 کاملA third locus for dominant optic atrophy on chromosome 22q.
A utosomal dominant optic atrophy (ADOA) is the most common form of autosomally inherited optic neuropathy, with an estimated prevalence of 1:50 000 in most populations, though it can reach 1:10 000 in Denmark. The disease typically presents in childhood with variable bilateral slow visual loss, temporal optic nerve pallor, centrocaecal visual field scotoma, and abnormalities of colour vision. ...
متن کاملElectrophysiological ON and OFF Responses in Autosomal Dominant Optic Atrophy.
PURPOSE To assess the effect of autosomal dominant optic atrophy (ADOA) on ON and OFF retinal ganglion cell (RGC) function by evaluating the ON and OFF components of the photopic negative response (PhNR). METHODS Twelve participants from six families with OPA1 ADOA and 16 age-matched controls were recruited. Electrophysiological assessment involved pattern ERGs (PERGs), focal (20°) and full-f...
متن کاملAutosomal dominant optic atrophy with asymptomatic peripheral neuropathy.
The association between hereditary motor and sensory neuropathy (HMSN) and optic atrophy has been termed HMSN type VI. The autosomal dominant inheritance of this syndrome is reported. Three generations were affected with optic atrophy, which differed in some respects from classic dominant optic atrophy, and an asymptomatic, mainly sensory, neuropathy.
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ژورنال
عنوان ژورنال: Orphanet Journal of Rare Diseases
سال: 2012
ISSN: 1750-1172
DOI: 10.1186/1750-1172-7-46