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MRI of the intraorbital optic nerve in patients with autosomal dominant optic atrophy

Neuroradiology, 2000
Measurements of the intraorbital optic nerve were made using high-resolution coronal MRI in 10 adults with autosomal dominant optic atrophy. Comparisons were made with previous studies of 10 normal adult subjects. The cross-sectional diameters of the optic nerve and the perineural subarachnoid space were measured and a ratio of there diameters at ...
Anthony T Moore, Shomi S Bhattacharya, Marcela Votruba   +2 more
exaly   +4 more sources

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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

Autosomal Dominant Optic AtrophyA 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.
Creig S Hoyt, C S Hoyt
exaly   +2 more sources

The reduction of temporal optic nerve head microcirculation in autosomal dominant optic atrophy [PDF]

Acta Ophthalmologica, 2016
AbstractPurposeTo evaluate the optic nerve head (ONH) microcirculation in autosomal dominant optic atrophy (ADOA) patients.MethodsThis study comprised 22 eyes of 12 ADOA patients, diagnosed according to clinical findings including family history and the presence of mutations in the OPA1 gene.
Koji M Nishiguchi, Noriko Himori, Tōru Nakazawa   +2 more
exaly   +3 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
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Autosomal Dominant Optic Atrophy

2019
There is a broad differential diagnosis for bilateral optic neuropathies, including inflammatory, ischemic, compressive, traumatic, nutritional, toxic, and inherited causes. In this chapter, we begin by discussing the approach to the patient who has bilateral symmetric optic neuropathies. We next review the genetic basis, clinical features, and natural
Matthew J. Thurtell, Robert L. Tomsak
openaire   +1 more source

Variable severity in autosomal dominant optic atrophy

Ophthalmic Paediatrics and Genetics, 1985
There are some indications in the literature on autosomal dominant optic atrophy that there are two genetic types - a congenital and a post-natal. This paper reviews the ocular findings of three affected members of a family with autosomal dominant optic atrophy - a father and two daughters - which appear to fit the criteria for a 'congenital' type of ...
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
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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