Results 21 to 30 of about 1,452,519 (228)

Case of autosomal dominant optic atrophy with relatively good visual function

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   +3 more sources

SARM1 loss protects retinal ganglion cells in a mouse model of autosomal dominant optic atrophy

The Journal of Clinical Investigation
Autosomal dominant optic atrophy (ADOA), the most prevalent hereditary optic neuropathy, leads to retinal ganglion cell (RGC) degeneration and vision loss.
Chen Ding, Papa S. Ndiaye, Sydney R. Campbell, Michelle Y. Fry, Jincheng Gong, Sophia R. Wienbar, Whitney Gibbs, Philippe Morquette, Luke H. Chao, Michael Tri H. Do, Thomas L. Schwarz   +10 more
doaj   +2 more sources

Nonsyndromic Parkinson disease in a family with autosomal dominant optic atrophy due to OPA1 mutations [PDF]

, 2017
Many genes implicated in familial Parkinson disease (PD) code for proteins with mitochondrial function.1 Several of these genes, including PINK1 and PARK2, are involved in mitophagy, a mitochondrial quality control pathway.2 We describe a family with 3 ...
Houlden, H, Lynch, DS, Wood, NW, Harley, J, Noyce, AJ, Martins, LM, Loh, SHY, Plun-Favreau, H   +7 more
core   +9 more sources

A Case Report of Unilateral <italic>OPA3</italic>-Related Dominant Optic Atrophy [PDF]

Case Reports in Ophthalmology
Introduction: Autosomal dominant optic atrophy (DOA) is an inherited optic neuropathy characterized by progressive bilateral vision loss, cecocentral visual field (VF) defects, and retinal ganglion cell degeneration.
Matthaeus Antony Ware, Haoran Charles Li, Jonathan Micieli   +2 more
doaj   +2 more sources

Identification of AFG3L2 dominant optic atrophy following reanalysis of clinical exome sequencing

American Journal of Ophthalmology Case Reports, 2023
Purpose: To highlight the importance of the utility of clinical exome sequencing, and show how it led to the diagnosis of nonsyndromic autosomal dominant optic atrophy arising from an autosomal dominant variant in AFG3L2.
Michael C. Brodsky, Rory J. Olson, Faizal Z. Asumda, Madeline Q.R. Lopour, Lisa A. Schimmenti, Eric W. Klee   +5 more
doaj   +1 more source

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei, Elena Parrini, Claudia Bianchini, Maria Luisa Ricci, Renzo Guerrini   +4 more
wiley   +1 more source

Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy

EMBO Molecular Medicine, 2023
Graphical Abstract Gerber et al report 2 autosomal recessive pathogenic Misato homolog 1 (MSTO1) variants causing hereditary optic atrophy and raise concerns about a previously identified dominant variant of MSTO1 by Gal et al (2017).
Sylvie Gerber, Lola Lessard, Cécile Rouzier, Samira Ait‐el‐Mkadem Saadi, Roxana Ameli, Stéphane Thobois, Lucie Abouaf, Françoise Bouhour, Josseline Kaplan, Audrey Putoux, Antoine Pegat, Jean‐Michel Rozet   +11 more
doaj   +1 more source

Novel NR2F1 variant identified by whole-exome sequencing in a patient with Bosch–Boonstra–Schaaf optic atrophy syndrome

Indian Journal of Ophthalmology, 2022
Bosch–Boonstra–Schaaf optic atrophy syndrome (BBSOAS) is an extremely rare autosomal dominant disorder characterized by intellectual disability, developmental delay, seizures, hypotonia, hearing loss, and optic nerve atrophy.
Ayca Kocaaga, Sevgi Yimenicioglu, Haluk Hüseyin Gürsoy   +2 more
doaj   +1 more source

Multiethnic involvement in autosomal-dominant optic atrophy in Singapore [PDF]

Eye, 2016
PurposeAutosomal-dominant optic atrophy (ADOA), often associated with mutations in the OPA1 gene (chromosome 3q28-q29) is rarely reported in Asia. Our aim was to identify and describe this condition in an Asian population in Singapore.Patients and methodsPreliminary cross-sectional study at the Singapore National Eye Centre, including patients with ...
Loo, J, Singhal, S, Rukmini, A, Tow, S, Amati-Bonneau, Patrizia, Procaccio, Vincent, Bonneau, Dominique, Gooley, J, Reynier, Pascal, Ferré, Marc, Milea, Dan   +10 more
openaire   +2 more sources

Case report: Corneal endothelial degeneration and optic atrophy in dentatorubral-pallidoluysian atrophy quantified by specular micrography and optical coherence tomography

Frontiers in Neurology, 2022
IntroductionDentatorubral-pallidoluysian atrophy (DRPLA) is an autosomal dominant neurodegenerative disease with various neurological manifestations. Corneal endothelial degeneration and optic atrophy have been reported separately; however, there are no ...
Shunya Takizawa, Hiroto Mitamura, Hiroto Mitamura, Yuko Ohnuki, Kenji Kawai, Yoichi Ohnuki, Eiichiro Nagata, Wakoh Takahashi   +7 more
doaj   +1 more source