Results 181 to 190 of about 9,462 (208)
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Archives of Ophthalmology, 1969
A 5-year-old child was examined because of decreased vision with as yet no detectable objective explanation. The mother and grandmother were known to have decreased vision and pallor of the optic nerve heads. Other presumed affected members of the maternal family were identified through five generations.
L R, Shapiro +3 more
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A 5-year-old child was examined because of decreased vision with as yet no detectable objective explanation. The mother and grandmother were known to have decreased vision and pallor of the optic nerve heads. Other presumed affected members of the maternal family were identified through five generations.
L R, Shapiro +3 more
openaire +2 more sources
Mitochondrial DNA content is decreased in autosomal dominant optic atrophy
Neurology, 2005Autosomal dominant optic atrophy (ADOA) is the commonest form of inherited optic neuropathy. Mutations in the OPA1 gene encoding a dynamin-related mitochondrial protein underlie ADOA and may perturb the biogenesis and maintenance of mitochondria.To investigate the mutation spectrum of the OPA1 gene and assess alterations in mitochondrial content caused
J Y, Kim +5 more
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A novel OPA1 mutation in a Chinese family with autosomal dominant optic atrophy
Biochemical and Biophysical Research Communications, 2012A large four-generation Chinese family with autosomal dominant optic atrophy (ADOA) was investigated in the present study. Eight of the family members were affected in this pedigree. The affected family members exhibited early-onset and progressive visual impairment, resulting in mild to profound loss of visual acuity.
Juanjuan, Zhang +9 more
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Autosomal Dominant Optic Atrophy: Penetrance and Expressivity in Patients With OPA1 Mutations
American Journal of Ophthalmology, 2007We identified families with autosomal dominant optic atrophy (ADOA), determined the number and type of OPA1 mutations, and investigated the phenotypic variation and penetrance in ADOA Australian pedigrees.Cross-sectional genetics study.Probands were identified on the basis of characteristic clinical features of ADOA.
Amy C, Cohn +7 more
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MULTIPLE SCLEROSIS–LIKE DISORDER IN OPA1-RELATED AUTOSOMAL DOMINANT OPTIC ATROPHY
Neurology, 2008Autosomal dominant optic atrophy (ADOA) is a progressive ophthalmologic disorder caused in two-thirds of the cases by a mutation in the optic atrophhy 1 (IPA1) gene, a nuclear gene encoding a mitochondrial protein. We report a patient in whom an OPA1 mutation was responsible for a bilateral optic atrophy associated with multiple sclerosis-like (MSL ...
Verny, Christophe +10 more
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Autosomal dominant optic atrophy. A spectrum of disability.
Ophthalmology, 1980Autosomal dominant optic atrophy is an abiotrophy with an insidious onset in the first decade of life. The clinical features of 31 individuals in six pedigrees are detailed in this study. These data suggest that here is considerable intrafamilial and interfamilial expression of dysfunction. Moreover, asymmetry of the visual loss in not unusual.
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Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift fur Augenheilkunde, 1986
A family is described with 20 members in three successive generations affected by optic atrophy without other ocular or extraocular manifestations. The anomaly was transmitted as an autosomal-dominant character. There was a clearly bimodal distribution of severity: 4 male patients complained of severe impairment of vision since childhood while 16 other
G, Gorgone +5 more
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A family is described with 20 members in three successive generations affected by optic atrophy without other ocular or extraocular manifestations. The anomaly was transmitted as an autosomal-dominant character. There was a clearly bimodal distribution of severity: 4 male patients complained of severe impairment of vision since childhood while 16 other
G, Gorgone +5 more
openaire +1 more source
Vision‐related quality of life and visual ability in patients with autosomal dominant optic atrophy
Acta Ophthalmologica, 2022Christina Eckmann-Hansen +2 more
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