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Hereditary optic neuropathies
Last reviewed: 07.07.2025
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Hereditary optic neuropathies are genetic defects that cause vision loss, sometimes with cardiac or neurological abnormalities. There is no effective treatment.
Hereditary optic neuropathies typically present in childhood or adolescence with bilateral, symmetrical central vision loss. Vision loss is usually permanent and, in some cases, progressive. By the time optic atrophy is detected, significant damage to the optic nerve has already occurred.
Dominant optic atrophy is inherited in an autosomal dominant manner. It is the most common of the inherited optic neuropathies with a prevalence rate of 1:10,000-50,000. It is considered an optic abiotrophy, a premature degeneration of the optic nerve leading to progressive vision loss. The onset of the disease is in the first decade of life.
In Leber's hereditary optic neuropathy, there is an abnormality of mitochondrial DNA, and the function of cellular respiration is affected. Although the mitochondrial DNA disorder occurs throughout the body, the primary manifestation is vision loss. 80-90% of cases are in males. The disease has a maternal type of inheritance, all offspring of a woman who carries this trait will inherit it, but only women can pass it on, since mitochondria are located in the cytoplasm of the cell, and the cytoplasm of the offspring (zygote) is determined by the cytoplasm of the egg.
[ Symptoms of hereditary optic neuropathies
Most patients with dominant optic atrophy have no associated neurological abnormalities, although nystagmus and hearing loss have been reported. The only symptom is slowly progressive bilateral vision loss, usually mild until adulthood. The entire optic disc or sometimes just the temporal portion is pale without visible vessels. Yellow-blue color vision is impaired. Molecular genetic testing is performed to confirm the diagnosis.
Vision loss in Leber hereditary optic neuropathy usually begins between 15 and 35 years of age (range 1 to 80 years). Painless loss of central vision in one eye is usually followed by loss of vision in the other eye within weeks to months. Simultaneous vision loss has been reported. Most patients have vision less than 20/200 (0.1). Ophthalmoscopic examination may reveal telangiectatic microangiopathy, swelling of the nerve fiber layer around the optic disc, and lack of dye leakage on fluorescein angiography. Optic atrophy eventually develops.
A subset of patients with Leber hereditary optic neuropathy have abnormal cardiac conduction and require an ECG. Other patients may have minimal neurologic deficits such as postural tremor, absent ankle reflexes, dystonia, spasticity, or multiple sclerosis.
Treatment of hereditary optic neuropathies
There is no effective treatment for hereditary optic neuropathies. For Leber hereditary optic neuropathy, glucocorticoids, vitamin supplements, and antioxidants are ineffective. A small study found benefit from quinine analogs in the early phase. Avoiding substances like alcohol that can deplete mitochondrial function is theoretically reasonable, but their effectiveness has not been proven. Patients should avoid smoking and excessive alcohol intake. Patients with cardiac and neurological abnormalities should be referred to specialists. Low vision assist devices may be helpful. Genetic counseling is recommended.