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Autosomal Dominant Optic Atrophy
2019There 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
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MRI of the intraorbital optic nerve in patients with autosomal dominant optic atrophy
Neuroradiology, 2000Measurements 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 Moore +2 more
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Variable severity in autosomal dominant optic atrophy
Ophthalmic Paediatrics and Genetics, 1985There 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 ...
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A Clinicopathologic Study of Autosomal Dominant Optic Atrophy
American Journal of Ophthalmology, 1979Of 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 +3 more
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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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Probable autosomal dominant optic atrophy with hearing loss
Ophthalmic Paediatrics and Genetics, 1985The 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
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The Autosomal Dominant Syndrome of Progressive Optic Atrophy and Congenital Deafness
American Journal of Ophthalmology, 1979Four 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 +4 more
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