Results 11 to 20 of about 67,593 (295)

Macular choroidal thickness and peripapillary retinal nerve fiber layer thickness in normal adults and patients with optic atrophy due to acute idiopathic demyelinating optic neuritis. [PDF]

PLoS ONE, 2018
PURPOSE:To evaluate the association between macular choroidal thickness and peripapillary RNFL thickness in patients with optic atrophy due to acute idiopathic demyelinating optic neuritis and in normal controls using spectral domain optical coherence ...
Kyung-Ah Park, Daye Diana Choi, Sei Yeul Oh   +2 more
doaj   +1 more source

Identification of AFG3L2 dominant optic atrophy following reanalysis of clinical exome sequencing

American Journal of Ophthalmology Case Reports, 2023
Purpose: To highlight the importance of the utility of clinical exome sequencing, and show how it led to the diagnosis of nonsyndromic autosomal dominant optic atrophy arising from an autosomal dominant variant in AFG3L2.
Michael C. Brodsky, Rory J. Olson, Faizal Z. Asumda, Madeline Q.R. Lopour, Lisa A. Schimmenti, Eric W. Klee   +5 more
doaj   +1 more source

Growth retardation-alopecia-pseudoanodontia-optic atrophy (GAPO) syndrome: A rare cause of optic atrophy of optic atrophy

Indian Journal of Ophthalmology. Case Reports, 2021
This case reports on a 21/2-year-old male child with GAPO syndrome, a rare autosomal recessive condition characterized by growth retardation (G), alopecia (A), pseudoanodontia (P), and optic atrophy (O).
Aditya Sethi, Sahebaan S Sethi
doaj   +1 more source

Arsenical optic atrophy

Indian Journal of Ophthalmology, 1964
Shukla B, Ahuja O, Paul S
doaj   +2 more sources

Risk factors associated with progression from papilloedema to optic atrophy: results from a cohort of 113 patients

BMJ Open Ophthalmology, 2023
Background The aim of this study was to assess the risk factors for atrophic progression of patients with papilloedema secondary to intracranial hypertension, using optical coherence tomography parameters.Methods A retrospective study was conducted at ...
Bertrand Audoin, Sarah Demortiere, Penelope Tilsley, Ruben Attia, Ruben Fitoussi, Kevin Mairot, Jan-Patrick Stellman, Thierry David, Natacha Stolowy   +8 more
doaj   +1 more source

Genetic spectrum and characteristics of autosomal optic neuropathy in Korean: Use of next-generation sequencing in suspected hereditary optic atrophy

Frontiers in Neurology, 2022
AimsTo evaluate the clinical characteristics and causative genetic variants in autosomal optic atrophy diagnosed using next-generation sequencing (NGS).MethodsA cohort of 57 unrelated families affected with bilateral optic atrophy were recruited from two
Yuri Seo, Tae Young Kim, Dongju Won, Saeam Shin, Jong Rak Choi, Jong Rak Choi, Seung-Tae Lee, Seung-Tae Lee, Byung Joo Lee, Hyun Taek Lim, Hyun Taek Lim, Sueng-Han Han, Jinu Han   +12 more
doaj   +1 more source

Neuro-Ophthalmologic Variability in Presentation of Genetically Confirmed Wolfram Syndrome: A Case Series and Review

Brain Sciences, 2023
Wolfram syndrome is a neurodegenerative disorder caused by pathogenic variants in the genes WFS1 or CISD2. Clinically, the classic phenotype is composed of optic atrophy, diabetes mellitus type 1, diabetes insipidus, and deafness.
Ruben Jauregui, Nicolas J. Abreu, Shani Golan, Joseph F. Panarelli, Meenakshi Sigireddi, Gopi K. Nayak, Doria M. Gold, Janet C. Rucker, Steven L. Galetta, Scott N. Grossman   +9 more
doaj   +1 more source

Bilateral primary optic neuropathy as the presenting manifestation of tuberculosis in an immunocompetent patient

IDCases, 2019
Vision impairment is one of the devastating complications of central nervous system tuberculosis (CNS TB). Optic atrophy is a sequelae of various forms of CNS TB which, ultimately, is responsible for vision impairment.
Santhosh Narayanan, Divya Prakash, Gomathy Subramaniam   +2 more
doaj   +1 more source

Traumatic Optic Atrophy [PDF]

The Journal of Nervous And Mental Disease, 1922
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Ginestous, &Na;, Deb??dat, &Na;
openaire   +2 more sources

Solving a 50 year mystery of a missing OPA1 mutation: more insights from the first family diagnosed with autosomal dominant optic atrophy [PDF]

, 2010
Background: Up to the 1950s, there was an ongoing debate about the diversity of hereditary optic neuropathies, in particular as to whether all inherited optic atrophies can be ascribed to Leber's hereditary optic neuropathy (LHON) or represent different ...
Alexander Christiane, Schimpf Simone, Bernd Wissinger, Zrenner, Eberhart, Alavi, M.V., Schimpf, Simone, Auburger Georg, Zrenner, E., Zrenner Eberhart, Schimpf, S., Alavi-Khorassani Moghadam, Marcel Victor, Auburger, Georg, Leo-Kottler, Beate, Marcel V Alavi, Wissinger, Bernd, Christiane Alexander, Nico Fuhrmann, Wissinger, B., Fuhrmann Nico, Beate Leo-Kottler, Alexander, Christiane, Kamenisch, York, Fuhrmann, Nico, Kamenisch, Y., Wissinger Bernd, Auburger, G., Simone Schimpf, Eberhart Zrenner, Georg Auburger, Kamenisch York, York Kamenisch, Alexander, C., Leo-Kottler, B., Leo-Kottler Beate, Alavi Marcel V, Fuhrmann, N.   +35 more
core   +1 more source