Results 11 to 20 of about 62,534 (254)
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
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
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
n ...
Ginestous, &Na;, Deb??dat, &Na;
openaire +2 more sources
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
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
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
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
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)
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

