Optic atrophy 1

What causes optic atrophy 1?

Optic atrophy type 1 is caused by a change (pathogenic variant or mutation) in the OPA1 gene. This gene provides instructions to the body to make a protein that helps the mitochondria function correctly. Mitochondria are the parts of the cell that help the cell produce energy. The protein that is created by the OPA1 gene helps the mitochondria maintain a normal shape and structure. Therefore, this protein is important in helping mitochondria create energy for the cells to use. The protein also has a role in the process called programmed cell death (apoptosis).

When there is a pathogenic variant in the OPA1 gene, there is not enough functioning protein to help the mitochondria maintain the normal shape and structure. This causes the mitochondria to not produce enough energy for cells. It also causes cells to undergo cell death earlier than they should. When cells of the eyes do not receive enough energy and undergo cell death earlier than they should, it causes loss of tissue in parts of the eye called the retina and the optic nerve. These parts of the eye transmit signals from the eyes to the brain so that we can see. Loss of cells in the retina and optic nerve cause the signs and symptoms of optic atrophy type 1.

In some cases, people with optic atrophy type 1 do not have a pathogenic variant in the OPA1 gene that is found on genetic testing. In these cases, the exact cause of the disease is unknown.

Last updated on 05-01-20

How is optic atrophy 1 diagnosed?

Optic atrophy type 1 may be suspected when a person has signs and symptoms of the disease including vision loss beginning in childhood, loss of color vision affecting blue and yellow colors (tritanopia), and findings of loss of tissue of the optic nerve (optic atrophy) on an exam by an ophthalmologist. A doctor may take a medical history and family history, as people with optic atrophy type 1 may have other signs and symptoms of the disease or other family members with signs and symptoms. The diagnosis can be confirmed with genetic testing of the OPA1 gene.

Last updated on 05-01-20

How is optic atrophy 1 inherited?

Optic atrophy type 1 is inherited in an autosomal dominant manner. This means that having a genetic change (pathogenic variant or mutation) in one copy of the OPA1 gene can cause the signs and symptoms of optic atrophy type 1. We inherit one copy of the OPA1 gene from our mother and the other from our father. When a person with a pathogenic variant in OPA1 has children, for each child there is a:

  • 50% chance to inherit the changed copy of OPA1
  • 50% chance to inherit the working copy of OPA1

When a person has a pathogenic variant in the OPA1 gene, it can be difficult to predict the signs and symptoms that the person may have. This is because the signs and symptoms of optic atrophy type 1 can vary, even among members of the same family (variable expressivity). In addition, some people with pathogenic variants in OPA1 do not have any signs or symptoms of optic atrophy type 1 at all (reduced penetrance).

In most cases, people with optic atrophy type 1 inherit the pathogenic variant in OPA1 from one of their parents. This parent may have different signs and symptoms of the disease than other family members, or the parent may not have any signs or symptoms of the disease at all. It is not known why there is such a wide variation of signs and symptoms that can be associated with optic atrophy type 1. It may be that there are genetic and environmental factors that influence the signs and symptoms of the disease.

In some cases, a pathogenic variant in the OPA1 gene occurs for the first time in the person diagnosed with optic atrophy type 1, and it was not inherited from either parent. Pathogenic variants that are occurring for the first time are called de novo.

People who have questions about the chances for other family members to have optic atrophy type 1 may wish to speak with a genetic counselor.

Last updated on 05-01-20

What is optic atrophy 1?

Optic atrophy 1 , also known as optic atrophy type 1 is a disease that affects the optic nerve. The optic nerve carries signals from the eye to the brain about what is seen. People with optic atrophy type 1 have an optic nerve that has lost some tissue (atrophy). This atrophy causes the optic nerve not to work as well as it should, which affects the vision. Signs and symptoms of optic atrophy type 1 include vision loss, difficulty distinguishing colors, and an abnormally pale appearance (pallor) of the optic nerve. The vision loss typically begins at age 4-6 years-old. The disease can occur in people of any ethnicity but seems to be more common in people of Danish descent.

Other symptoms of optic atrophy type 1 may include sensorineural hearing loss, difficulty coordinating movements (ataxia) and muscle disease (myopathy). When people have optic atrophy type 1 and signs and symptoms other than vision loss, it is known as autosomal dominant optic atrophy plus syndrome.

Optic atrophy type 1 is caused by a genetic change (pathogenic variant or mutation) in the OPA1 gene. The disease is inherited in an autosomal dominant manner. Optic atrophy type 1 may be suspected when a person has signs and symptoms of the disease on an exam done by an ophthalmologist. Genetic testing may be used to confirm the diagnosis. Treatment for optic atrophy type 1 may include vision and hearing aids when necessary.

Last updated on 05-01-20

What is the long-term outlook for people with optic atrophy 1?

In general, people with optic atrophy type 1 have worsening vision loss over time. However, some people only have mild vision loss, and for some people the vision loss does not worsen with time. Vision loss can interfere with daily life, but it is not expected to shorten a person’s lifespan.

The long-term outlook for people with optic atrophy type 1 may depend on the severity of vision loss and if there are any other symptoms, such as hearing loss or muscle weakness. About 20% of people with a genetic change (pathogenic variant or mutation) in the OPA1 gene have symptoms other than vision loss.

In some cases, people with optic atrophy type 1 may experience anxiety and depression due to the symptoms of the disease. It is important to contact your doctor if you have concerns that you or a family member is suffering from anxiety or depression.

Last updated on 05-01-20

How might optic atrophy 1 be treated?

Treatment for optic atrophy type 1 typically includes regular exams by an ophthalmologist, including measuring vision and color vision, and regular evaluation by an audiologist. Vision aids such as glasses, contact lenses, and magnifiers may be used to help treat vision loss. Cochlear implants may help improve hearing in people who have sensorineural hearing loss. Some people with optic atrophy type 1 have shown improvement in vision after being treated with idebenone. However, more research is needed to determine how effective this medication is in treating the disease.

People with optic atrophy type 1 may be recommended to avoid alcohol intake and certain medications, as these can impact the function of mitochondria in the cells.

Last updated on 05-01-20

Name: Prevent Blindness America 211 West Wacker Drive, Suite 1700
Chicago, IL, 60606 , United States
Toll Free: 800-331-2020 Email: info@preventblindness.org Url: http://www.preventblindness.org/
Name: National Alliance for Eye and Vision Research (NAEVR) 1801 Rockville Pike, Suite 400
Rockville, MD, 20852, United States
Phone: 240-221-2905 Fax : 240-221-0370 Email: jamesj@eyeresearch.org Url: http://www.eyeresearch.org/
Name: American Foundation for the Blind 1401 South Clark Street Suite 730
Arlington, VA, 22202, United States
Phone: 212-502-7600 Toll Free: 800-232-5463 Fax : 888-545-8331 Email: http://www.afb.org/sendMail.asp Url: http://www.afb.org/
Name: National Federation of the Blind 200 East Wells Street at Jernigan Place
Baltimore, MD, 21230, United States
Phone: 410-659-9314 Fax : 410-685-5653 Email: pmaurer@nfb.org Url: http://www.nfb.org/
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/

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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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