Optic atrophy 1

Common Name(s)

Optic atrophy 1, Kjer's optic neuropathy

Optic atrophy 1 is a condition that mainly affects vision, but may include other features. Vision loss typically begins within the first decade of life; severity varies widely among affected people (from nearly normal vision to complete blindness), even among members of the same family. Vision problems may include difficulty distinguishing colors, progressive narrowing of the field of vision (tunnel vision) and an abnormally pale appearance (pallor) of the optic nerve. Additional, less common abnormalities may include sensorineural hearing loss, ataxia, myopathy (muscle disease) and other neurological findings. It is usually caused by mutations in the OPA1 gene, although some individuals with optic atrophy 1 do not have identified mutations in this gene, in which case the cause of the condition is unknown. This condition is inherited in an autosomal dominant pattern but some cases result from a new mutation in the gene and occur in people with no history of the disorder in their family. Treatment focuses on individual symptoms when possible.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Optic atrophy 1" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Optic atrophy 1" returned 5 free, full-text research articles on human participants. First 3 results:

Mutation survey of the optic atrophy 1 gene in 193 Chinese families with suspected hereditary optic neuropathy.
 

Author(s): Yabin Chen, Xiaoyun Jia, Panfeng Wang, Xueshan Xiao, Shiqiang Li, Xiangming Guo, Qingjiong Zhang

Journal: Mol. Vis.. 2013 ;19():292-302.

 

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. The purpose of this study was to detect OPA1 gene mutations and associated phenotypes in Chinese patients with suspected hereditary ...

Last Updated: 12 Feb 2013

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Isolated exon 8 deletion in type 1 spinal muscular atrophy with bilateral optic atrophy: unusual genetic mutation leading to unusual manifestation?
 

Author(s): D Maiti, M Bhattacharya, S Yadav

Journal: J Postgrad Med. ;58(4):294-5.

 

Proximal spinal muscular atrophy (SMA) or type 1 SMA is a fatal autosomal recessive disorder usually caused by homozygous deletion of exons 7 and 8 in the survivor motor neuron (SMN) gene. Additional deletion of the neuronal apotosis inhibitory protein (NAIP) gene exacerbates the ...

Last Updated: 9 Jan 2013

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Optic atrophy 1 mediates mitochondria remodeling and dopaminergic neurodegeneration linked to complex I deficiency.
 

Author(s): D Ramonet, C Perier, A Recasens, B Dehay, J Bové, V Costa, L Scorrano, M Vila

Journal: Cell Death Differ.. 2013 Jan;20(1):77-85.

 

Mitochondrial complex I dysfunction has long been associated with Parkinson's disease (PD). Recent evidence suggests that mitochondrial involvement in PD may extend beyond a sole respiratory deficit and also include perturbations in mitochondrial fusion/fission or ultrastructure. ...

Last Updated: 10 Dec 2012

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Reviews from the PubMed Database

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The terms "Optic atrophy 1" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Expression of Optic Atrophy Type 1 (OPA1) Protein in Lung Adenocarcinoma
 

Status: Recruiting

Condition Summary: Lung Adenocarcinoma

 

Last Updated: 26 Nov 2010

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Safety Study of an Adeno-associated Virus Vector for Gene Therapy of Leber's Hereditary Optic Neuropathy (LHON) Caused by the G11778A Mutation
 

Status: Recruiting

Condition Summary: Leber's Hereditary Optic Neuropathy; G11778A Gene Mutation; Human Mitochondrial ND4 Gene

 

Last Updated: 15 Jul 2014

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GLP Analogs for Diabetes in Wolfram Syndrome Patients
 

Status: Not yet recruiting

Condition Summary: Diabetes Mellitus Associated With Genetic Syndrome; Wolfram Syndrome

 

Last Updated: 23 Feb 2011

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