Results 191 to 200 of about 1,459,190 (233)

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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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 ...
W G Pearce
exaly   +3 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

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

Acta ophthalmologica, 2021
To assess retinal vascular involvement in patients with autosomal dominant optic atrophy (ADOA) genetically confirmed by the presence of the OPA1 (Optic Atrophy 1) gene mutation using a multimodal protocol of investigation of retinal posterior pole.
M. Cesareo, C. Giannini, M. Di Marino, G. Aloe, A. Martucci, F. Aiello, A. Cusumano, R. Mancino, F. Ricci, R. Sorge, C. Nucci   +10 more
semanticscholar   +1 more source

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

Prevalence of Macular Microcystoid Lacunae in Autosomal Dominant Optic Atrophy Assessed With Adaptive Optics

Journal of neuro-ophthalmology, 2022
Supplemental Digital Content is Available in the Text. Background: To assess the prevalence of macular microcystoid lacunae in patients with autosomal dominant optic atrophy (ADOA) and its association with visual function and inner retinal morphology ...
Christina Eckmann-Hansen, T. Bek, B. Sander, K. Grønskov, M. Larsen   +4 more
semanticscholar   +1 more source

Targeting OPA1 protein for therapeutic intervention in autosomal dominant optic atrophy: In silico drug discovery.

Journal of Molecular Graphics and Modelling
Autosomal dominant hereditary optic atrophy (ADOA) is a prevalent hereditary condition characterized by the gradual and simultaneous deterioration of vision.
Azhar Iqbal, Muhammad Sajid, Guendouzi Abdelkrim, Ammara Riaz, Umar Farooq, S. Bibi, G. Albadrani, M. Alghadi, Amany A. Sayed, M. Abdel-Daim   +9 more
semanticscholar   +1 more source

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