Results 201 to 210 of about 1,459,190 (233)

Clinical and Structural Parameters in Autosomal Dominant Optic Atrophy Patients: A Cross-Sectional Study Using Optical Coherence Tomography.

Journal of neuro-ophthalmology
BACKGROUND Autosomal Dominant Optic Atrophy (ADOA) is a hereditary optic neuropathy characterized by retinal ganglion cell degeneration and optic nerve fiber loss. This study examined the correlation between clinical and structural parameters in patients
A. Camós-Carreras, Marc Figueras-Roca, S. Albà-Arbalat, Rafel Alcubierre, M. Saint-Gerons, Bernardo Sánchez-Dalmau   +5 more
semanticscholar   +1 more source

Hereditary Optic Atrophy

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, E L, Raab, I H, Leopold, K, Hirschhorn   +3 more
openaire   +2 more sources

Mitochondrial DNA content is decreased in autosomal dominant optic atrophy

Neurology, 2005
Autosomal 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, J-M, Hwang, H S, Ko, M-W, Seong, B-J, Park, S S, Park   +5 more
openaire   +2 more sources

Targeting the OPA1 pathway in Autosomal Dominant Optic Atrophy (ADOA): 25 years from gene discovery to therapeutic strategy

Expert opinion on therapeutic targets
Introduction Autosomal Dominant Optic Atrophy (ADOA) is a rare hereditary optic neuropathy primarily caused by OPA1 mutations. Retinal ganglion cell (RGC) loss results in variable visual impairments, occasionally accompanied by extra-ocular ...
M. Alavi
semanticscholar   +1 more source

A novel OPA1 mutation in a Chinese family with autosomal dominant optic atrophy

Biochemical and Biophysical Research Communications, 2012
A 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, Yimin, Yuan, Bing, Lin, Hao, Feng, Yan, Li, Xianning, Dai, Huihui, Zhou, Xujie, Dong, Xiao-Ling, Liu, Min-Xin, Guan   +9 more
openaire   +2 more sources

Autosomal Dominant Optic Atrophy: Penetrance and Expressivity in Patients With OPA1 Mutations

American Journal of Ophthalmology, 2007
We 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, Carmel, Toomes, Catherine, Potter, Katherine V, Towns, Alex W, Hewitt, Chris F, Inglehearn, Jamie E, Craig, David A, Mackey   +7 more
openaire   +2 more sources

OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28

Nature Genetics, 2000
C. Alexander, M. Votruba, U. E. Pesch, D. Thiselton, S. Mayer, A. Moore, M. Rodríguez, U. Kellner, B. Leo-Kottler, G. Auburger, S. Bhattacharya, B. Wissinger   +11 more
semanticscholar   +1 more source

Autosomal dominant optic atrophy. A spectrum of disability.

Ophthalmology, 1980
Autosomal 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.
openaire   +1 more source

Optical coherence tomography angiography in the multimodal assessment of the retinal posterior pole in autosomal dominant optic atrophy

Acta Ophthalmologica, 2022
Francesco Aiello, Matteo di Marino, Raffaele Mancino   +2 more
exaly  

Autosomal Dominant Optic Atrophy

Ophthalmology, 1980
openaire   +1 more source