Autosomal dominant optic atrophy plus syndrome

What causes autosomal dominant optic atrophy plus syndrome (ADOA plus)?

Autosomal dominant optic atrophy plus syndrome (ADOA plus) is caused by mutations (changes) in the OPA1 gene. This gene provides instructions to make a protein that is present in many different parts of the body including the retina (part of the eye), muscles, and nervous system. The OPA1 protein is located in the mitochondria. Mitochondria are the parts of the cell that provide energy, and the OPA1 protein helps regulate the changing shapes of the mitochondria, so that the mitochondria can do its many jobs inside the cell. When there are changes in the OPA1 gene, there is not enough protein working correctly to help maintain the mitochondria, especially in the eyes, muscles, and nervous system. Scientists believe these changes cause the signs and symptoms associated with ADOA plus.

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.

Last updated on 05-01-20

How is autosomal dominant optic atrophy plus syndrome (ADOA plus) diagnosed?

Autosomal dominant optic atrophy plus syndrome (ADOA plus) is typically suspected when a person has signs or symptoms consistent with the syndrome, such as evidence of degeneration of the optic nerve (optic atrophy) on an eye exam. If ADOA plus is suspected, other tests may be ordered including:

Genetic testing of the OPA1 __gene may be ordered to confirm the diagnosis and to help identify other family members who are affected with the syndrome.

Last updated on 05-01-20

How is autosomal dominant optic atrophy plus syndrome (ADOA plus) inherited?

Autosomal dominant optic atrophy plus syndrome (ADOA plus) is inherited in an autosomal dominant manner. This means that people with ADOA plus have a disease-causing change in one copy of the OPA1 __gene in every cell of their body. Of note, a disease-causing genetic change used to be called a mutation, but is now called a pathogenic variation on genetic testing reports. Most genes, including OPA1 , come in pairs. We inherit one copy of each gene from our mother and the other from our father. When a person with ADOA plus has children, each child has a:

  • 50% chance to have ADOA plus
  • 50% chance not to have ADOA plus

ADOA plus shows features called variable expressivity and reduced penetrance. Variable expressivity means that people with the syndrome may have signs and symptoms that are different from each other, even among people in the same family. Reduced penetrance means that, in some cases, people in a family with ADOA plus may inherit a disease-causing change in the OPA1 gene without showing any signs or symptoms of the syndrome. However, anyone with a disease- causing change in the OPA1 gene, whether they have symptoms or not, can pass on the genetic change to their children, and those children could have symptoms of ADOA plus.

Last updated on 05-01-20

What is the long-term outlook for people affected by autosomal dominant optic atrophy plus syndrome (ADOA plus)?

In general, autosomal dominant optic atrophy plus syndrome (ADOA plus) is a progressive syndrome, meaning symptoms may continue to worsen over time. In some cases, symptoms of the syndrome such as vision or hearing loss may stabilize. Because the different symptoms of ADOA plus may begin at different ages, it may be difficult to know if other symptoms of the disease will develop over time. In general, it is thought that the vision loss associated with ADOA plus is more severe than in individuals who have other types of autosomal dominant optic atrophy.

Last updated on 05-01-20

How might autosomal dominant optic atrophy plus syndrome (ADOA plus) be treated?

Unfortunately, there is no cure for autosomal dominant optic atrophy plus syndrome (ADOA plus). Treatment options that may be recommended for people with ADOA plus include:

Currently, there are no medications that are regularly used to relieve or reverse the symptoms associated with ADOA plus. In some clinical trials, people with a disease-causing genetic change in the OPA1 gene have found some improvement in vision using a medication called idebenone. However, this medication may not be appropriate for everyone with ADOA plus, and it may only be available through research studies.

Last updated on 05-01-20

Name: Autosomal Dominant Optic Atrophy Association 94 Bethel Court
Port Matilda, PA, 16870,
Phone: 570-419-8799 Email: lindsey.allen@adoaa.org Url: http://www.adoaa.org/
Treft RL, Sanborn GE, Carey J, Swartz M, Crisp D, Wester DC & Creel D. Dominant optic atrophy, deafness, ptosis, ophthalmoplegia, dystaxia, and myopathy. A new syndrome Ophthalmology. August, 1984; 91(8):. 908-15.. Reference Link

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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