Results 21 to 30 of about 354,465 (294)

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

EMBO 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, Agnès Gruart, Polynikis Kaimakis, Cécile Allet, Linda Serra, Paolo Giacobini, José M Delgado‐García, Paola Bovolenta, Michèle Studer   +8 more
doaj   +1 more source

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

British 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

Etiology and clinical profile of childhood optic nerve atrophy at a tertiary eye care center in South India

Indian Journal of Ophthalmology, 2014
Background: Optic nerve atrophy is an important ophthalmological sign that may be associated with serious systemic conditions having a significant bearing on the overall morbidity of the child.
Supriya Chinta, Batriti S Wallang, Virender Sachdeva, Amit Gupta, Preeti Patil-Chhablani, Ramesh Kekunnaya   +5 more
doaj   +1 more source

A novel homozygous variant in the SPG7 gene presenting with childhood optic nerve atrophy

American Journal of Ophthalmology Case Reports, 2022
Purpose: To describe a case of hereditary spastic ataxia (HSP) presenting with childhood optic nerve atrophy and report a novel homozygous variant in the SPG7 gene.
Kathrine O. Eriksen, Andreas Reidar Wigers, Iselin Marie Wedding, Anne Kjersti Erichsen, Tuva Barøy, Kristoffer Søberg, Øystein Kalsnes Jørstad   +6 more
doaj   +1 more source

Association of the mtDNA m.4171C>A/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesions [PDF]

, 2014
Background: An increasing number of mitochondrial DNA (mtDNA) mutations, mainly in complex I genes, have been associated with variably overlapping phenotypes of Leber’s hereditary optic neuropathy (LHON), mitochondrial encephalomyopathy with stroke ...
Cristina Scaduto, Tonon C, Caporali L, NASSETTI, STEFANIA-ALESSANDRA, Daniela Brunetto, Nassetti, Stefania, Raffaele Lodi, Tonon, Caterina, Francesco Toni, Stipa C, Carelli V., D. Brunetto, Antonio Torroni, A. Torroni, Caterina Tonon, Leonardo Caporali, F. Gandini, Chiara La Morgia, Toni, Francesco, Toni F, Nassetti S, Lodi R, Brunetto D, Anna Olivieri, Francesca Gandini, La Morgia C, Brunetto, Daniela, Parmeggiani, Antonia, Carlotta Stipa, Gandini, Francesca, Scaduto C, C. Scaduto, Stefania Nassetti, Valerio Carelli, Stipa, Carlotta, Carelli, Valerio, Scaduto, Cristina, Lodi, Raffaele, La Morgia, Chiara, Antonia Parmeggiani, Caporali, Leonardo, Torroni, Antonio, Olivieri, Anna, A. Olivieri, Parmeggiani A   +44 more
core   +2 more sources

Wolfram syndrome with childhood glaucoma: A rare case report with review of literature

Journal of Clinical Ophthalmology and Research, 2020
Wolfram syndrome (WFS) is a rare neurodegenerative disorder characterized by young-onset diabetes mellitus, central diabetes insipidus, optic nerve atrophy, and hearing loss.
Divya Kesarwani, Gunjan Jain, Sarswati, Rachna Agarwal, Kumudini Sharma, Vaibhav Kumar Jain   +5 more
doaj   +1 more source

Case report: Corneal endothelial degeneration and optic atrophy in dentatorubral-pallidoluysian atrophy quantified by specular micrography and optical coherence tomography

Frontiers in Neurology, 2022
IntroductionDentatorubral-pallidoluysian atrophy (DRPLA) is an autosomal dominant neurodegenerative disease with various neurological manifestations. Corneal endothelial degeneration and optic atrophy have been reported separately; however, there are no ...
Shunya Takizawa, Hiroto Mitamura, Hiroto Mitamura, Yuko Ohnuki, Kenji Kawai, Yoichi Ohnuki, Eiichiro Nagata, Wakoh Takahashi   +7 more
doaj   +1 more source

Pseudoexfoliative Glaucoma in a Patient with Toxic Optic Atrophy and Cupping

, 2011
A 57-year-old man, who had developed bilateral symmetric optic atrophy and cupping due to methanol intoxication nine years ago, noticed slowly progressive visual impairment in the left eye (OS). In ophthalmic examination, visual acuity was 20/60 in the
Dilaver Erşanlı, Ali Aydın, Ali Ayd›n, Akın Çakır, Ak›n Çak›r, Taner Kar, Ümit Aykan   +6 more
core   +1 more source

dominant optic atrophy phenotype: Infantile nystagmus and optic atrophy without spastic paraplegia

, 2023
Spastic paraplegia is a neurodegenerative disorder characterized by progressive leg weakness and spasticity due to degeneration of corticospinal axons. SPG7 encodes paraplegin, and pathogenic variants in the gene cause hereditary spastic paraplegia as an
Yuri Seo, Jinu Han, Hyun Taek Lim, Byung Joo Lee   +3 more
core   +2 more sources

OPA1 increases the risk of normal but not high tension glaucoma

, 2010
Background Primary open angle glaucoma is a progressive optic neuropathy characterised by the selective loss of retinal ganglion cells, pathological optic disc cupping and visual field defects.
Griffiths, P. G., Birch, M. K., Andrews, R. M., Chinnery, P. F., Hudson, G., Yu-Wai-Man, P., Stewart, J .D.   +6 more
core   +1 more source