Results 11 to 20 of about 1,459,190 (233)

Drosophila model to clarify the pathological significance of OPA1 in autosomal dominant optic atrophy [PDF]

eLife
Autosomal dominant optic atrophy (DOA) is a progressive form of blindness caused by degeneration of retinal ganglion cells and their axons, mainly caused by mutations in the OPA1 mitochondrial dynamin like GTPase (OPA1) gene.
Yohei Nitta, Jiro Osaka, Ryuto Maki, Satoko Hakeda-Suzuki, Emiko Suzuki, Satoshi Ueki, Takashi Suzuki, Atsushi Sugie   +7 more
doaj   +3 more sources

Volumetric brain analysis and associated retinal thinning in autosomal dominant optic atrophy patients [PDF]

NeuroImage: Reports
Introduction: Dominant optic atrophy (DOA) is an inherited mitochondrial disorder characterized by retinal thinning and progressive visual loss.
Punpath Pajareeyapong, Sittaya Buathong, Sasi Thammasarnsophon, Kanchalika Sathianvichitr, Natthapon Rattanathamsakul, Akarawit Eiamsamarng, Niphon Chirapapaisan, Chanon Ngamsombat   +7 more
doaj   +3 more sources

Autosomal dominant optic atrophy caused by six novel pathogenic OPA1 variants and genotype–phenotype correlation analysis [PDF]

BMC Ophthalmology, 2022
Purpose To describe the genetic and clinical features of nineteen patients from eleven unrelated Chinese pedigrees with OPA1-related autosomal dominant optic atrophy (ADOA) and define the phenotype-genotype correlations.
Jinfeng Han, Ya Li, Ya You, Ke Fan, Bo Lei   +4 more
doaj   +3 more sources

IT TAKES TWO TO TANGO: potential novel therapies for autosomal dominant optic atrophy [PDF]

Frontiers in Ophthalmology
Autosomal dominant optic atrophy (ADOA) is among the most prevalent inherited optic neuropathies with hallmark symptoms of bilateral, painless, progressive, and typically permanent vision loss over time.
Ritu Sampige, Lyra E.A. Seaborn, Molly Pluenneke, Annika Jyothi, Sophie Saland, Chisom M. Chinedu-Obi, Caroline Keehn, Andrew G. Lee, Andrew G. Lee, Andrew G. Lee, Andrew G. Lee, Andrew G. Lee, Andrew G. Lee, Andrew G. Lee, Andrew G. Lee   +14 more
doaj   +4 more sources

Genomic deletions in OPA1 in Danish patients with autosomal dominant optic atrophy [PDF]

BMC Medical Genetics, 2011
Background Autosomal dominant optic atrophy (ADOA, Kjer disease, MIM #165500) is the most common form of hereditary optic neuropathy. Mutations in OPA1 located at chromosome 3q28 are the predominant cause for ADOA explaining between 32 and 89% of cases ...
Larsen Michael, Milea Dan, Grønskov Karen, Almind Gitte J, Brøndum-Nielsen Karen, Ek Jakob   +5 more
doaj   +7 more sources

Autosomal Dominant Optic Atrophy Plus Syndrome [PDF]

Optometric Clinical Practice, 2023
Background: Dominant optic atrophy (DOA) is the most commonly encountered hereditary optic neuropathy in clinical practice and is the result of a mutation in the OPA1 or OPA3 genes encoding mitochondrial membrane proteins.
Aaron W. Case, Lovelee E. Sayomac, Matthew J. Anderson   +2 more
semanticscholar   +3 more sources

Natural history of 15 patients with autosomal dominant WFS1 pathogenic variants associated with sensorineural hearing loss and optic atrophy [PDF]

Orphanet Journal of Rare Diseases
Objective Autosomal dominant pathogenic variants in WFS1 cause a spectrum of disorders with phenotypic manifestations including low-frequency sensorineural hearing loss, optic nerve atrophy accompanied by low- to mid-frequency sensorineural hearing loss,
Jessica P. Roberts, Abby F. Tang, Daniela Hernandez, Brianna Carman, Liam Oiknine, Cris Brown, Stacy Hurst, Yunshuo Tang, Fumihiko Urano   +8 more
doaj   +3 more sources

Visual Function and Inner Retinal Structure in Relation to Birth Factors in Autosomal Dominant Optic Atrophy. [PDF]

Invest Ophthalmol Vis Sci, 2023
Purpose The extreme variation in expressivity of autosomal dominant optic atrophy (ADOA) is unexplained. It is present from early childhood, why there is reason to search for pre- and perinatal risk factors for poor vision in ADOA.
Eckmann-Hansen C, Bek T, Sander B, Larsen M.   +3 more
europepmc   +2 more sources

Sustained intracellular calcium rise mediates neuronal mitophagy in models of autosomal dominant optic atrophy. [PDF]

Cell Death Differ, 2022
Mitochondrial dysfunction and mitophagy are often hallmarks of neurodegenerative diseases such as autosomal dominant optic atrophy (ADOA) caused by mutations in the key mitochondrial dynamics protein optic atrophy 1 (Opa1). However, the second messengers
Zaninello M, Palikaras K, Sotiriou A, Tavernarakis N, Scorrano L.   +4 more
europepmc   +3 more sources

Modelling autosomal dominant optic atrophy associated with OPA1 variants in iPSC-derived retinal ganglion cells. [PDF]

Hum Mol Genet, 2022
Autosomal dominant optic atrophy (DOA) is the most common inherited optic neuropathy, characterized by the preferential loss of retinal ganglion cells (RGCs), resulting in optic nerve degeneration and progressive bilateral central vision loss.
Sladen PE, Jovanovic K, Guarascio R, Ottaviani D, Salsbury G, Novoselova T, Chapple JP, Yu-Wai-Man P, Cheetham ME.   +8 more
europepmc   +2 more sources