Results 11 to 20 of about 9,987 (182)

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   +16 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: 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

Autosomal Dominant Optic Atrophy Plus Syndrome

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. The resultant mitochondrial dysfunction causes a distinct set of ophthalmic findings and may progress to extra-ocular systems known
Aaron W. Case, Lovelee E. Sayomac, Matthew J. Anderson   +2 more
openaire   +3 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

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

Inhibition of autophagy curtails visual loss in a model of autosomal dominant optic atrophy [PDF]

Nature Communications, 2020
Autosomal dominant optic atrophy is caused by mutations in the mitochondrial fusion protein OPA1. Here, the authors show that AMPK-induced autophagy depletes mitochondria in axons of retinal ganglion cells and that autophagic inhibition reverses vision ...
Marta Zaninello, Konstantinos Palikaras, Deborah Naon, Keiko Iwata, Stephanie Herkenne, Ruben Quintana-Cabrera, Martina Semenzato, Francesca Grespi, Fred N. Ross-Cisneros, Valerio Carelli, Alfredo A. Sadun, Nektarios Tavernarakis, Luca Scorrano   +12 more
doaj   +2 more sources