Autosomal Dominant Optic Atrophy (Dominant Optic Atrophy)

Dominant optic atrophy is a hereditary optic neuropathy causing decreased visual acuity, color vision deficits, a centrocecal scotoma, and optic nerve pallor (Hum. Genet. 1998; 102: 79-86). Mutations leading to this condition have been mapped to the OPA1 gene at chromosome 3q28-q29. OPA1 codes for a dynamin-related GTPase that localizes to mitochondria.

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Networked: 102 relevant articles (1 outcomes, 6 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Macular Edema
2.	Optic Nerve Diseases (Optic Neuropathy)
3.	Leber Hereditary Optic Atrophy (Leber's Hereditary Optic Neuropathy)
4.	Blindness (Hysterical Blindness)
5.	Optic Atrophy

Experts

1.	Carelli, Valerio: 10 articles (01/2015 - 01/2004)
2.	Amati-Bonneau, Patrizia: 9 articles (02/2015 - 06/2003)
3.	Reynier, Pascal: 8 articles (01/2015 - 06/2003)
4.	Barboni, Piero: 8 articles (09/2014 - 11/2004)
5.	Milea, Dan: 7 articles (01/2015 - 06/2008)
6.	Chevrollier, Arnaud: 6 articles (01/2015 - 06/2008)
7.	Bonneau, Dominique: 6 articles (01/2015 - 06/2003)
8.	La Morgia, Chiara: 6 articles (09/2014 - 05/2009)
9.	Valentino, Maria Lucia: 6 articles (09/2014 - 11/2004)
10.	Wissinger, Bernd: 6 articles (12/2013 - 11/2004)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Autosomal Dominant Optic Atrophy:

1.	DNA (Deoxyribonucleic Acid)IBA 01/01/1997 - "To perform DNA linkage studies in an extensive 5-generation British pedigree with dominant optic atrophy and to validate the efficacy of domiciliary screening for affected members. " 10/01/2006 - "To report the case of a 26-year-old woman with a family history of dominant optic atrophy who requested DNA testing and counselling. " 10/01/2006 - "Prognostic DNA testing and counselling for dominant optic atrophy due to a novel OPA1 mutation." 05/01/2009 - "Genetic disorders with impaired oxidative phosphorylation are extremely heterogeneous, as their clinical presentation ranges from lesions of single tissues or specialized structures, such as the optic nerve in the mitochondrial DNA-associated Leber's hereditary optic neuropathy and in the nuclear DNA-associated dominant optic atrophy, to more widespread pathologies, including myopathies, peripheral neuropathies, encephalomyopathies, cardiopathies, or complex multisystem disorders. " 08/01/2000 - "Mutations at np3460, np11,778 and np14,484 of mtDNA were tested by PCR-restriction detection in peripheral blood DNA from 16 cases of clinically probable LHON, 44 cases of possible LHON, 2 cases of alcohol amblyopia, 4 cases of multiple sclerosis, 5 cases of autosomal dominant optic atrophy, 4 cases of primary open-angle glaucoma, 3 cases of spinocerebellar degeneration, and 1 case of ethambutol-induced optic neuropathy. "
2.	Retinaldehyde (Retinal)IBA 01/01/2015 - "The aim of the study was to evaluate the relationship between visual function and retinal nerve fiber layer thickness (RNFLT) determined using Stratus optical coherence tomography (OCT) in patients with autosomal dominant optic atrophy (ADOA). " 05/01/2010 - "This study set out to investigate retinal nerve fibre layer (RNFL) thickness and best corrected visual acuity (BCVA) in relation to age in healthy subjects and patients with OPA1 autosomal dominant optic atrophy (DOA). " 01/01/2015 - "Optical coherence tomography shows early loss of the inferior temporal quadrant retinal nerve fiber layer in autosomal dominant optic atrophy." 09/01/2014 - "To assess the peripapillary retinal nerve fiber and macular retinal ganglion cell (RGC) loss in patients with dominant optic atrophy (DOA) stratified by OPA1 mutation type. " 03/01/2013 - "To assess the association between retinal nerve fiber layer (RNFL) thickness and visual acuity in a family from Siracusa (Sicily) with autosomal dominant optic atrophy (ADOA) due to a heterozygous c.869G>A OPA1 mutation. "
3.	Dynamins (Dynamin)IBA 05/01/2008 - "Human OPA1 (optic atrophy type 1) is a dynamin-related protein of the mitochondrial IMS (intermembrane space) involved in membrane fusion and remodelling. " 05/01/2007 - "To characterize the molecular links between type-1 autosomal dominant optic atrophy (ADOA) and OPA1 dysfunctions, the effects of pathogenic alleles of this dynamin on mitochondrial morphology and apoptosis were analyzed, either in fibroblasts from affected individuals, or in HeLa cells transfected with similar mutants. " 11/09/2004 - "It is unclear whether OPA1, a dynamin-related protein of the inner membrane mutated in autosomal dominant optic atrophy, participates in fusion or fission. " 10/01/2000 - "Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy." 11/01/2015 - "We found a significant decrease in optic atrophy type 1 (Opa-1) and mitofusin 1 (Mfn-1) related to fusion proteins as well as an increase in fission protein dynamin-related protein 1 (Drp-1). "
4.	GTP Phosphohydrolases (GTPases)IBA 05/01/2013 - "Mutations of the inner membrane GTPase OPA1 are responsible for type 1 dominant optic atrophy, by mechanisms not fully understood. " 09/01/2006 - "Structural model of the OPA1 GTPase domain may explain the molecular consequences of a novel mutation in a family with autosomal dominant optic atrophy." 01/01/2008 - "Autosomal dominant optic atrophy (ADOA), a form of progressive bilateral blindness due to loss of retinal ganglion cells and optic nerve deterioration, arises predominantly from mutations in the nuclear gene for the mitochondrial GTPase, OPA1. " 06/01/2010 - "The dynamin-related GTPase OPA1 is mutated in autosomal dominant optic atrophy (DOA) (Kjer type), an inherited neuropathy of the retinal ganglion cells. " 10/01/2009 - "The majority of patients with autosomal dominant optic atrophy (DOA) harbor pathogenic OPA1 mutations and certain missense mutations, mostly within the GTPase domain, have recently been shown to cause multiple mitochondrial DNA (mtDNA) deletions in skeletal muscle. "
5.	Cytochromes c (Cytochrome c)IBA 01/01/2013 - "Since more and more evidence shows that other cell types are affected as well, we would like to discuss the pathology of dominant optic atrophy, which is caused by heterozygous sequence variants in OPA1, in the light of the current view on OPA1 protein function in mitochondrial quality control, in particular on its function in mitochondrial fusion and cytochrome C release. " 07/14/2006 - "Here we provide evidence that Optic Atrophy 1 (OPA1), a profusion dynamin-related protein of the inner mitochondrial membrane mutated in dominant optic atrophy, protects from apoptosis by preventing cytochrome c release independently from mitochondrial fusion. " 01/01/2009 - "This study was conducted to determine whether elevated hydrostatic pressure alters mitochondrial structure, triggers release of the dynamin-related guanosine triphosphatase (GTPase) optic atrophy type 1 (OPA1) or cytochrome C from mitochondria, alters OPA1 gene expression, and can directly induce apoptotic cell death in cultured retinal ganglion cell (RGC)-5 cells. "
6.	GuanosineIBA 08/27/2007 - "OPA1, a dynamin-related guanosine triphosphatase mutated in dominant optic atrophy, is required for the fusion of mitochondria. " 01/01/2009 - "This study was conducted to determine whether elevated hydrostatic pressure alters mitochondrial structure, triggers release of the dynamin-related guanosine triphosphatase (GTPase) optic atrophy type 1 (OPA1) or cytochrome C from mitochondria, alters OPA1 gene expression, and can directly induce apoptotic cell death in cultured retinal ganglion cell (RGC)-5 cells. "
7.	antineoplaston A10 (A 10)IBA 02/01/1997 - "Recent studies of three large Danish pedigrees have mapped a gene for dominant optic atrophy (OPA1) to a 10 cM region on chromosome 3q, between markers D3S1314 and D3S1265 (3q28-qter). "
8.	MMEIBA 01/01/2013 - "The purpose of this study was to investigate the characteristics of microcystic macular edema (MME) determined from the en face images obtained by an adaptive optics (AO) fundus camera in patients with autosomal dominant optic atrophy (ADOA) and to try to determine the mechanisms underlying the degeneration of the inner retinal cells and RNFL by using the advantage of AO. "
9.	Mitochondrial DNA (mtDNA)IBA 10/02/2012 - "OPA1 mutations induce mtDNA proliferation in leukocytes of patients with dominant optic atrophy." 10/01/2009 - "Secondary mtDNA defects do not cause optic nerve dysfunction in a mouse model of dominant optic atrophy." 01/01/2009 - "OPA1-related dominant optic atrophy is not strongly influenced by mitochondrial DNA background." 04/01/2006 - "OPA1 mutations and mitochondrial DNA haplotypes in autosomal dominant optic atrophy." 03/22/2005 - "Mitochondrial DNA content is decreased in autosomal dominant optic atrophy."
10.	Optic atrophy 1IBA 04/01/2015 - "Mutations in the optic atrophy 1 gene (OPA1) have been reported in patients with autosomal dominant optic atrophy (ADOA). " 02/01/2013 - "Optic atrophy 1 (OPA1) mutations cause dominant optic atrophy (DOA) with retinal ganglion cell (RGC) and optic nerve degeneration. " 01/01/2015 - "Autosomal-dominant optic atrophy (ADOA) is the most common inherited optic neuropathy, due to mutations in the optic atrophy 1 gene (OPA1) in about 60%-80% of cases. " 01/01/2013 - "Dominant optic atrophy (DOA) is the most common form of autosomal inherited optic neuropathy, mainly caused by mutations in the optic atrophy 1 (OPA1) gene. " 01/01/2010 - "Autosomal dominant optic atrophy (ADOA) is the most common form of hereditary optic neuropathy caused by mutations in the optic atrophy 1 (OPA1) gene. "