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Autosomal dominant optic atrophy: A novel treatment for OPA1 splice defects using U1 snRNA adaption [PDF]

Molecular Therapy: Nucleic Acids, 2021
Autosomal dominant optic atrophy (ADOA) is frequently caused by mutations in the optic atrophy 1 (OPA1) gene, with haploinsufficiency being the major genetic pathomechanism. Almost 30% of the OPA1-associated cases suffer from splice defects.
Christoph Jüschke, Thomas Klopstock, Claudia B. Catarino, Marta Owczarek-Lipska, Bernd Wissinger, John Neidhardt   +5 more
doaj   +7 more sources

Case of autosomal dominant optic atrophy with relatively good visual function [PDF]

BMC Ophthalmology
Background Dominant optic atrophy (DOA) is an inherited optic neuropathy caused by mutations of the OPA1 gene. Patients with DOA have a gradual loss of vision that is often detected in early life.
Midori Tachibana, Takaaki Hayashi, Yuro Igawa, Kei Mizobuchi, Yosuke Miyasaka, Takashi Tsuchihashi, Kei Shinoda   +6 more
doaj   +4 more sources

Autosomal Dominant Optic Atrophy Plus Syndrome: A Case Report

Delhi Journal of Ophthalmology, 2020
A 9-year-old boy of Indian origin presented with defective vision and nystagmus. The parents also complained of hearing loss. On examination he had bilateral optic atrophy.
V. Rajesh Prabu, H. Ranjini, Rajlaxmi B. Wasnik, Parul Priyambada   +3 more
doaj   +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   +2 more sources

An autosomal dominant optic atrophy: Kjer type [PDF]

Revista Brasileira de Oftalmologia
We present a case of an autosomal dominant optic neuropathy, known as Kjer's disease. The condition can manifest since childhood, presenting with bilateral symmetric optic atrophy and progressive vision loss.
Flavio Mac Cord Medina, Natália Carneiro de Freitas   +1 more
doaj   +3 more sources

Characteristics of autosomal dominant WFS1-associated optic neuropathy and its comparability to OPA1-associated autosomal dominant optic atrophy [PDF]

Scientific Reports
This study aims to describe the ophthalmic characteristics of autosomal dominant (AD) WFS1-associated optic atrophy (AD WFS1-OA), and to explore phenotypic differences with dominant optic atrophy (DOA) caused by mutations in the OPA1-gene.
Cansu de Muijnck, Lonneke Haer-Wigman, Judith A. M. van Everdingen, Tanya Lushchyk, Pam A. T. Heutinck, Marieke F. van Dooren, Anneke J. A. Kievit, Virginie J. M. Verhoeven, Marleen E. H. Simon, Rosemarie A. Wasmann, Irene C. Notting, Elfride De Baere, Sophie Walraedt, Julie De Zaeytijd, Filip Van den Broeck, Bart P. Leroy, Camiel J. F. Boon, Maria M. van Genderen   +17 more
doaj   +10 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   +2 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   +4 more sources

The reduction of temporal optic nerve head microcirculation in autosomal dominant optic atrophy [PDF]

Acta Ophthalmologica, 2016
AbstractPurposeTo evaluate the optic nerve head (ONH) microcirculation in autosomal dominant optic atrophy (ADOA) patients.MethodsThis study comprised 22 eyes of 12 ADOA patients, diagnosed according to clinical findings including family history and the presence of mutations in the OPA1 gene.
Koji Nishiguchi, Toru Nakazawa
exaly   +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   +2 more sources