Results 11 to 20 of about 62,534 (254)

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

open access: yesFrontiers 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   +12 more
doaj   +1 more source

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

open access: yesBrain 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   +9 more
doaj   +1 more source

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

open access: yesIDCases, 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   +2 more
doaj   +1 more source

Traumatic Optic Atrophy [PDF]

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

Optic cupping secondary to periventricular leukomalacia: A potential mimic for normal pressure glaucoma

open access: yesRadiology Case Reports, 2022
We herein present a case of periventricular leukomalacia (PVL) with secondary optic pathway denervation atrophy, which was initially labeled as normal tension glaucoma.
Ahmed H El Beltagi, MD, FRCR, FFRRCSI, EDiNR, EBiHNR   +6 more
doaj   +1 more source

An unusual cause of optic atrophy in a child

open access: yesIndian Journal of Ophthalmology, 2014
A 13-year-old child presenting with gross visual impairment was diagnosed as a case of optic atrophy. However, radiological investigations revealed osteopetrosis, which, though rare, can result in optic atrophy.
Nishant Kumar   +4 more
doaj   +1 more source

Optic Atrophy in Children

open access: yesAmerican Journal of Ophthalmology, 1988
We reviewed the records of 218 children in whom a diagnosis of optic atrophy had been made between 1978 and 1987. A cause for the atrophy was determined for 195 patients (89%). Tumor, the most frequent cause, was found in 63 patients (29%). The most common tumor was a glioma of the anterior visual pathway; it was found in 27 patients (43% of tumors; 12%
M X, Repka, N R, Miller
openaire   +2 more sources

Assessment of Optic Nerve Changes in Patients Receiving Anti-Tuberculosis Drugs at Different Time Interval

open access: yesJournal of Bahria University Medical and Dental College, 2022
Objectives: To assess optic nerve changes in patients receiving anti-tuberculosis drugs and to assess optic nerve changes at different time interval of therapy.
Shakila Abbas   +5 more
doaj   +1 more source

Mouse Nr2f1 haploinsufficiency unveils new pathological mechanisms of a human optic atrophy syndrome

open access: yesEMBO Molecular Medicine, 2019
Optic nerve atrophy represents the most common form of hereditary optic neuropathies leading to vision impairment. The recently described Bosch‐Boonstra‐Schaaf optic atrophy (BBSOA) syndrome denotes an autosomal dominant genetic form of neuropathy caused
Michele Bertacchi   +8 more
doaj   +1 more source

Secondary exotropia following H1N1 viral infection (‘swine’ influenza)

open access: yesBritish and Irish Orthoptic Journal, 2012
Aim:  To present a case of secondary exotropia following H1N1  viral infection (‘swine’ influenza). Method:  The case of a 27-year-old woman with optic atrophy and secondary exotropia with previous history of H1N1  viral infection is presented.
Ian Dawson
doaj   +1 more source

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