Acta Ophthalmologica, 2016 PurposeTo determine the molecular genetic cause in previously unreported probands with optic atrophy from the United Kingdom, Czech Republic and Canada.MethodsOPA1 coding regions and flanking intronic sequences were screened by direct sequencing in 44 probands referred with a diagnosis of bilateral optic atrophy.
Petra Lišková +7 more
openalex +5 more sources
Association of optic atrophy and type 1 diabetes: clinical hallmarks for the diagnosis of Wolfram syndrome [PDF]
Arquivos de Neuro-Psiquiatria, 2015 José Luiz Pedroso +5 more
openalex +5 more sources
Medical management of hereditary optic neuropathies. [PDF]
, 2014 Hereditary optic neuropathies are diseases affecting the optic nerve. The most common are mitochondrial hereditary optic neuropathies, i.e., the maternally inherited Leber's hereditary optic neuropathy (LHON) and dominant optic atrophy (DOA).
Barboni, Piero +4 more
core +1 more source
Nogo receptor 1 is expressed by nearly all retinal ganglion cells. [PDF]
PLoS ONE, 2018 A variety of conditions ranging from glaucoma to blunt force trauma lead to optic nerve atrophy. Identifying signaling pathways for stimulating axon growth in the optic nerve may lead to treatments for these pathologies.
Alexander M Solomon +3 more
doaj +1 more source
Optic nerve head segmentation [PDF]
, 2004 Reliable and efficient optic disk localization and segmentation are important tasks in automated retinal screening. General-purpose edge detection algorithms often fail to segment the optic disk due to fuzzy boundaries, inconsistent image contrast or ...
Basu, A. +6 more
core +1 more source
Reduction of the ATPase inhibitory factor 1 (IF1) leads to visual impairment in vertebrates [PDF]
, 2018 In vertebrates, mitochondria are tightly preserved energy producing organelles, which sustain nervous system development and function. The understanding of proteins that regulate their homoeostasis in complex animals is therefore critical and doing so ...
A Ames 3rd +73 more
core +2 more sources
OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes [PDF]
Brain, 2008 Mutations in OPA1, a dynamin-related GTPase involved in mitochondrial fusion, cristae organization and control of apoptosis, have been linked to non-syndromic optic neuropathy transmitted as an autosomal-dominant trait (DOA). We here report on eight patients from six independent families showing that mutations in the OPA1 gene can also be responsible ...
Amati-Bonneau, Patrizia +33 more
openaire +6 more sources
Magnetic Resonance Imaging of Optic Nerve Traction During Adduction in Primary Open-Angle Glaucoma With Normal Intraocular Pressure. [PDF]
, 2017 PurposeWe used magnetic resonance imaging (MRI) to ascertain effects of optic nerve (ON) traction in adduction, a phenomenon proposed as neuropathic in primary open-angle glaucoma (POAG).MethodsSeventeen patients with POAG and maximal IOP ≤ 20 mm Hg, and
Bonelli, Laura +8 more
core +1 more source
Mitochondrial dynamics–fusion, fission, movement, and mitophagy–in neurodegenerative diseases [PDF]
, 2009 Neurons are metabolically active cells with high energy demands at locations distant from the cell body. As a result, these cells are particularly dependent on mitochondrial function, as reflected by the observation that diseases of mitochondrial ...
Alexander +42 more
core +3 more sources
Concurrent OPA1 mutation and chromosome 3q deletion leading to Behr syndrome: a case report
BMC Pediatrics, 2020 Background Optic atrophy 1 (OPA1) gene mutations are associated with dominantly inherited optic neuropathy resulting in a progressive loss of visual acuity.
Ting Zeng +8 more
doaj +1 more source