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Disease Profile
Autosomal dominant optic atrophy plus syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 1 000 000
Age of onset
Adolescent
ICD-10
H47.2
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Dominant optic atrophy, deafness, ptosis, ophthalmoplegia, dystaxia, and myopathy; OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY; DOMINANT OPTIC ATROPHY PLUS SYNDROME;
Categories
Congenital and Genetic Diseases; Eye diseases; Metabolic disorders;
Summary
ADOA plus is caused by changes (
Symptoms
In general, the symptoms of ADOA plus are progressive. This means that symptoms of the syndrome may worsen over time. However, for some people with the syndrome, symptoms such as vision or hearing loss may stabilize. In rare cases, the symptoms of ADOA plus may progress to be similar to the symptoms of multiple sclerosis.[1]
ADOA plus is a syndrome that shows
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Impaired pain sensation |
Decreased pain sensation
|
0007328 |
Optic atrophy | 0000648 | |
Sensorineural hearing impairment | 0000407 | |
30%-79% of people have these symptoms | ||
Color vision defect |
Abnormal color vision
Abnormality of color vision
[ more ] |
0000551 |
Reduced tendon reflexes | 0001315 | |
Visual impairment |
Impaired vision
Loss of eyesight
Poor vision
[ more ] |
0000505 |
5%-29% of people have these symptoms | ||
Abnormality of visual evoked potentials | 0000649 | |
Ataxia | 0001251 | |
Decreased nerve conduction velocity | 0000762 | |
Gait disturbance |
Abnormal gait
Abnormal walk
Impaired gait
[ more ] |
0001288 |
Involuntary muscle stiffness, contraction, or spasm
|
0001257 | |
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 | |
Percent of people who have these symptoms is not available through HPO | ||
Abnormal amplitude of pattern reversal visual evoked potentials | 0000650 | |
Abnormal auditory evoked potentials | 0006958 | |
Autosomal dominant inheritance | 0000006 | |
Central scotoma |
Central blind spot
|
0000603 |
Centrocecal scotoma | 0000576 | |
Horizontal |
0000666 | |
Increased variability in muscle fiber diameter | 0003557 | |
Myopathy |
Muscle tissue disease
|
0003198 |
Ophthalmoplegia |
Eye muscle paralysis
|
0000602 |
Peripheral neuropathy | 0009830 | |
Polyneuropathy |
Peripheral nerve disease
|
0001271 |
Progressive |
Worsens with time
|
0003676 |
Progressive sensorineural hearing impairment | 0000408 | |
Drooping upper eyelid
|
0000508 | |
Red-green dyschromatopsia |
Red green color blindness
|
0000642 |
Reduced visual acuity |
Decreased clarity of vision
|
0007663 |
Tritanomaly |
Blue yellow color blindness
|
0000552 |
Cause
In some cases, people with a mutation in the OPA1 gene have a different disease called optic atrophy type 1 that only causes vision loss without any other symptoms. It is not known exactly why some people with changes in OPA1 only have vision loss while others have additional symptoms, but it may be in part based on the location of the change in the OPA1 gene.[3][6]
Diagnosis
Treatment
- Visual aids such as glasses and contact lenses
- Hearing aids or cochlear implants
Currently, there are no medications that are regularly used to relieve or reverse the symptoms associated with ADOA plus. In some
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
|
---|
Differential diagnosis includes several other hereditary optic neuropathies that may have bilateral manifestations associated with extra ocular features and that presents with a similar phenotype (such as Autosomal dominant Charcot-Marie-Tooth disease type 2A, Leber hereditary optic neuropathy, Wolfram syndrome and Wolfram-like syndrome (see these terms)).
Visit the Orphanet disease page for more information.
|
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
-
Autosomal Dominant Optic Atrophy Association
94 Bethel Court
Port Matilda, PA 16870
Telephone: 570-419-8799
E-mail: [email protected]
Website: https://www.adoaa.org/
Organizations Providing General Support
-
MitoAction
PO Box 310
Novi, MI 48376
Toll-free: 888-648-6228
E-mail: [email protected]
Website: https://www.mitoaction.org/ -
United Mitochondrial Disease Foundation
8085 Saltsburg Road, Suite 201
Pittsburgh, PA 15239
Toll-free: 1-888-317-8633
Telephone: +1-412-793-8077
Fax: +1-412-793-6477
E-mail: [email protected]
Website: https://www.umdf.org
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
In-Depth Information
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Autosomal dominant optic atrophy plus syndrome. Click on the link to view a sample search on this topic.
References
- Milea D and Procaccio V. Autosomal dominant optic atrophy plus syndrome. Orphanet. April 2015; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1215.
- Barboni P. et al. Idebenone treatment in patients with OPA1-mutant dominant optic atrophy. Brain. February 2013; 136(Pt 2):e231. https://www.ncbi.nlm.nih.gov/pubmed/23388408.
- Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy. Online Mendelian Inheritance in Man (OMIM). April 7, 2016; https://www.omim.org/entry/125250:
- Skidd PM, Lessell S, and Cestari DM. Autosomal dominant hereditary optic neuropathy (ADOA): a review of the genetics and clinical manifestations of ADOA and ADOA+. Seminars in Ophthalmology. September-November 2013; 28(5-6):422-426. https://www.ncbi.nlm.nih.gov/pubmed/24138050.
- Bonifert T, Karle KN, Tonagel F, Batra M, Wilhelm C, Theurer Y, Schoenfeld C, Kluba T, Kamenisch Y, Carelli V, Wolf J, Gonzalez MA, Speziani F, Schule R, Zuchner S, Schols L, Wissinger B, and Synofzik M. Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier. Brain. August 2014; 137(Pt. 8):2164-2177. https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/24970096/.
- Delettre-Cribaillet C, Hamel CP, and Lenaers G. Optic Atrophy Type 1. GeneReviews. November 12, 2015; https://www.ncbi.nlm.nih.gov/books/NBK1248/.
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