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.^[1]

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.^[1]

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.^[1][2]

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.^[3]

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.^[3]

In some cases, people with optic atrophy type 1 may experience anxiety and depression due to the symptoms of the disease.^[3] It is important to contact your doctor if you have concerns that you or a family member is suffering from anxiety or depression.