Results 151 to 160 of about 9,987 (182)

Autosomal Dominant Optic Atrophy

Ophthalmology, 1980
Creig S Hoyt
exaly   +2 more sources

A Clinicopathologic Study of Autosomal Dominant Optic Atrophy

American Journal of Ophthalmology, 1979
Of a family with 40 members, 12 had autosomal dominant optic atrophy. The affected members were aware of reduced vision from the first decade. Visual loss was moderate to severe, 6/12 (20/40) to 3/60 (10/200). The affected members showed similar centrocecal scotomata. Most affected patients had severe unclassified color defects.
P B, Johnston, R N, Gaster, V C, Smith, R C, Tripathi   +3 more
openaire   +2 more sources

Probable autosomal dominant optic atrophy with hearing loss

Ophthalmic Paediatrics and Genetics, 1985
The seventh family manifesting an entity described as automosal dominant optic atrophy with hearing loss is reported here. This disorder shows great inter- and intrafamilial variation in the onset time and the degree of loss of both vision and hearing. Unlike autosomal dominant optic atrophy without hearing loss, it appears to be associated with a red ...
M B, Mets, E, Mhoon
openaire   +2 more sources

Autosomal Dominant Optic Atrophy

2016
© 2016 Elsevier Inc. All rights reserved. A 7-year-old girl was referred to the Ophthalmology Department with a 6-month history of progressive difficulty reading the blackboard at school despite moving closer to the front of the classroom to see better. Her local optometrist was unable to improve her vision, and she had no significant refractive errors.
Yu-Wai-Man P, Chinnery PF
openaire   +2 more sources

The Autosomal Dominant Syndrome of Progressive Optic Atrophy and Congenital Deafness

American Journal of Ophthalmology, 1979
Four members of a family had the heriditary syndrome of dominantly inherited progressive optic atrophy and congenital sensorineural deafness. Hearing evaluations revealed that two members had a potentially treatable form of deafness.
C R, Kollarits, M L, Pinheiro, E R, Swann, D F, Marcus, W S, Corrie   +4 more
openaire   +2 more sources

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

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

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