Hereditary Optic Neuropathies

Hereditary optic neuropathies result from genetic defects that lead to vision loss, and occasionally from cardiac or neurological abnormalities. There is no effective treatment.

To the hereditary optic neuropathies include dominant optic atrophy and Leber’s hereditary Opitkusneuropathie (LHON), both of which are mitochondrial cytopathies. These disorders are manifested typically in childhood or adolescence with bilateral, symmetrical, central vision loss. The optic nerve damage is permanent and usually progressive in some cases. If a papillary can be seen a substantial damage has already occurred.

Hereditary optic neuropathies result from genetic defects that lead to vision loss, and occasionally from cardiac or neurological abnormalities. There is no effective treatment. To the hereditary optic neuropathies include dominant optic atrophy and Leber’s hereditary Opitkusneuropathie (LHON), both of which are mitochondrial cytopathies. These disorders are manifested typically in childhood or adolescence with bilateral, symmetrical, central vision loss. The optic nerve damage is permanent and usually progressive in some cases. If a papillary can be seen a substantial damage has already occurred. Dominant optic atrophy, the dominant optical atrophy is an autosomal dominant. With a prevalence of 1: 10,000 to 1: 50,000 is probably the most common hereditary optic neuropathy. It is believed that it is an optical abiotrophy, early degeneration of the optic nerve that leads to progressive loss of vision. It begins in the first decade of life. Leber’s hereditary optic neuropathy Leber’s Hereditary Optic Neuropathy includes an abnormality of mitochondrial DNA, which affects the cellular respiration. Although the mitochondrial DNA is affected throughout the body, the vision loss is the first manifestation. Most cases (80-90%) occur in men. The disease is transmitted with a maternal inheritance pattern, d. H. a woman with the anomaly is this inheritance to all children, but only the female offspring can bequeath the anomaly, because the zygote receives only mitochondria from the mother. , Symptoms and complaints dominant optic atrophy Most patients with a dominant optic atrophy have no associated therewith neurological abnormality although it has been reported nystagmus and hearing loss. The only symptom is a slowly progressing bilateral vision loss, which remains low through to old age. The entire papilla, or occasionally even the temporal component, is pale and without visible vessels. Typical is a blue-yellow Farbsinnstörung.Lebersche optic neuropathy The vision loss in patients with Leber’s Hereditary Optic Neuropathy typically begins between the ages of 15 and 35. (range 1-80 years). The painless loss of central vision in one eye of vision loss in the other eye is usually followed by weeks to months later. Also a simultaneous loss of vision in both eyes has been reported. Most patients lose vision and develop a visual acuity worse than 20/200. In ophthalmoscopic examination a Telangiectatic microangiopathy, a swelling of the nerve fiber layer around the optic disc, and a lack of leakage in fluorescein angiography can be seen. Finally, the optic atrophy is added. Some patients with Leber’s optic neuropathy have cardiac conduction disorders. Other patients have minor neurological abnormalities, such as a postural tremor, loss of the Achilles tendon reflex, dystonia, spasticity, or a demyelinating disease. Diagnosis Clinical Investigation Molecular genetic testing The diagnosis of dominant optic atrophy and Leber optic atrophy is mainly clinical. Molecular genetic studies serve to confirm many mutations that are responsible for both disorders. However, the results may be false negative, since there may be mutations that are not detected with molecular tests. If Leber’s hereditary optic neuropathy is suspected, an ECG should be performed to diagnose hidden cardiac conduction disorders. Symptomatic treatment Treatment: There is no effective treatment for hereditary optic neuropathies. Low vision aids (eg. As magnifiers, large print devices, talking clocks) may be helpful. It is recommended that genetic counseling. Hereditary Optic Neuropathy Leber corticosteroids, vitamin supplements and antioxidants have been tried without success in patients with hereditary optic neuropathy liver. A small study found an improvement by Chino analogs (ubiquinone and idebenone) in the early phase. The recommendation to avoid substances because it could burden the energy production of mitochondria (eg. As tobacco, alcohol, particularly with excessive consumption), sounds reasonable, even if the benefit is not proven. Patients with cardiac and neurological abnormalities should be referred to a specialist.

Health Life Media Team

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