Results 31 to 40 of about 1,459,190 (233)

Meta-analysis of genotype-phenotype analysis of OPA1 mutations in autosomal dominant optic atrophy

Mitochondrion, 2019
Autosomal Dominant Optic Atrophy (ADOA) is a neuro-ophthalmic disease characterized by progressive bilateral vision loss, pallor of the optic disc, central vision loss, and impairment of color vision.
Julia Han, Kathryn Osann, Virginia Kimonis   +2 more
exaly   +2 more sources

Autosomal dominant optic atrophy and cataract "plus" phenotype including axonal neuropathy. [PDF]

Neurol Genet, 2019
To characterize the phenotype in individuals with OPA3-related autosomal dominant optic atrophy and cataract (ADOAC) and peripheral neuropathy (PN).Two probands with multiple affected relatives and one sporadic case were referred for evaluation of a PN. Their phenotype was determined by clinical ± neurophysiological assessment.
Horga A, Bugiardini E, Manole A, Bremner F, Jaunmuktane Z, Dankwa L, Rebelo AP, Woodward CE, Hargreaves IP, Cortese A, Pittman AM, Brandner S, Polke JM, Pitceathly RDS, Züchner S, Hanna MG, Scherer SS, Houlden H, Reilly MM.   +18 more
europepmc   +8 more sources

Correlation between quality of vision and clinical and structural parameters in patients with Autosomal Dominant Optic Atrophy. [PDF]

Eye (Lond)
Camós-Carreras A, Figueras-Roca M, Albà-Arbalat S, Alcubierre R, Saint-Gerons M, Sánchez-Dalmau B.   +5 more
europepmc   +2 more sources

Comparison of the clinical and genetic features of autosomal dominant optic atrophy and normal tension glaucoma in young Chinese adults. [PDF]

Eye (Lond), 2023
Zhang Y, Sun X, Tian G, Chen Y.
europepmc   +2 more sources

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

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

Nonsyndromic Parkinson disease in a family with autosomal dominant optic atrophy due to <i>OPA1</i> mutations. [PDF]

Neurol Genet, 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 ...
Lynch DS, Loh SHY, Harley J, Noyce AJ, Martins LM, Wood NW, Houlden H, Plun-Favreau H.   +7 more
europepmc   +2 more sources