Results 21 to 30 of about 374,308 (293)
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Ginestous, &Na;, Deb??dat, &Na;
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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
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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
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Solving a 50 year mystery of a missing OPA1 mutation: more insights from the first family diagnosed with autosomal dominant optic atrophy [PDF]
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 +35 more
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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
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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
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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
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Background and purpose: Evaluating chronic sequelae of optic neuritis, such as optic neuropathy with or without optic nerve atrophy, can be challenging on whole brain MRI.
Kevin H. Boegel +4 more
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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
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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
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