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Hereditary Optic Nerve Disorders

(Hereditary Optic Neuropathies)

By

John J. Chen

, MD, PhD, Mayo Clinic

Medically Reviewed Oct 2022
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Topic Resources

Dominant optic atrophy and Leber hereditary optic neuropathy are uncommon inherited disorders that damage the optic nerve, causing vision loss.

  • Vision loss affects both eyes and usually develops in childhood or adolescence but can develop at any age.

  • Dominant optic atrophy causes gradual slow vision loss over years to decades, while Leber hereditary optic neuropathy causes more rapid vision loss over weeks to months.

  • People may rarely have abnormal heart or nervous system function.

  • Diagnosis is by a doctor's evaluation and sometimes confirmed by genetic testing.

  • The disorders cannot be reversed, but measures are taken to aid vision.

Causes of Hereditary Optic Nerve Disorders

The Retina and Optic Nerve
VIDEO

Dominant optic atrophy and Leber hereditary optic neuropathy are inherited disorders caused by abnormal genes. Both disorders are uncommon.

Dominant optic atrophy is inherited from the mother or father as a dominant gene Dominant disorders Genes are segments of deoxyribonucleic acid (DNA) that contain the code for a specific protein that functions in one or more types of cells in the body. Chromosomes are made of a very long strand... read more , meaning that only one copy of the gene is required for the disorder to develop. In other words, if either the father or the mother has the disease, then each child has a 50% chance of developing it.

Leber hereditary optic neuropathy is inherited through the mother only, because the abnormal genes are located in the mitochondria Mitochondrial chromosomes Genes are segments of deoxyribonucleic acid (DNA) that contain the code for a specific protein that functions in one or more types of cells in the body. Chromosomes are structures within cells... read more Mitochondrial chromosomes . Mitochondria are structures in cells that provide energy for the cell and have their own internal genes that are inherited from only the mother. Affected men cannot pass the disease on to their children. Leber hereditary optic neuropathy is more common among males.

Symptoms of Hereditary Optic Nerve Disorders

In dominant optic atrophy, vision loss often begins before the age of 10 years. The vision loss is very gradual over years to decades. Rarely, people can also have nystagmus (a rapid jerking movement of the eyes in one direction alternating with a slower drift back to the original position), hearing loss, or both. People also have trouble distinguishing shades of blue and yellow.

In Leber hereditary optic neuropathy, vision loss usually begins between the ages of 15 and 35. The vision loss is fairly rapid over weeks to several months. Rarely, people have abnormal heart conduction or nervous system function.

Diagnosis of Hereditary Optic Nerve Disorders

  • A doctor's evaluation

  • Sometimes genetic testing

Diagnosis is by a doctor's evaluation. Testing can identify some of the abnormal genes responsible for the disorders but not all. People who may have Leber hereditary optic neuropathy undergo electrocardiography to assess their heart.

Treatment of Hereditary Optic Nerve Disorders

  • Low-vision aids

There is no effective treatment, but new treatments are being studied. Limiting consumption of alcohol, which may affect the mitochondria, and not using tobacco products may help slow the rate of vision loss.

Magnifiers, large-print devices, and talking watches (low-vision aids) may help people with loss of vision.

Genetic counseling should be considered.

People who have heart or nervous system problems are sent to specialists.

NOTE: This is the Consumer Version. DOCTORS: VIEW PROFESSIONAL VERSION
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