A scientific article by A.L Zainab Wadah Nasser, entitled (Hereditary Optic Nerve Disorders)

17/10/2022   Share :        
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hereditary optic nerve disorders<br /> Autosomal dominant optic atrophy and Weber's hereditary optic neuropathy are uncommon inherited conditions that affect the optic nerve, causing vision loss.<br />• Vision loss occurs in childhood or adolescence and affects both eyes.<br />• Patients may also have cardiac abnormalities or malfunctions of the nervous system.<br />• Diagnosis is through a doctor's evaluation and is sometimes confirmed with genetic testing.<br />• The effects of the disturbances cannot be reversed, but actions can be taken to aid vision.<br />the reasons<br />Autosomal dominant optic atrophy and Leber hereditary optic neuropathy are genetic disorders caused by abnormal genes. Both disorders are uncommon, particularly Leber hereditary optic neuropathy.<br />Maternal or paternal dominant visual atrophy is inherited by dominant genes, meaning that only one copy of the gene is sufficient to cause the disease. In other words, if only one of the parents has the disease, each of their children faces a 50% chance of developing it.<br />Leber's hereditary optic neuropathy is inherited only through the mother, because the abnormal genes are located in the mitochondria. Mitochondria are structures within cells that provide energy for those cells, and mitochondria have their own internal genes that are inherited only from the mother. Affected people pass the disease on to their children. Leber's hereditary optic neuropathy is more common in males.<br />Symptoms<br />Vision loss occurs in the dominant optic atrophy before the child reaches 10 years of age. Patients may also have nystagmus (rapid eye movement in one direction alternating with slow return to the base position), hearing loss, or both. Some patients may also have Difficulty distinguishing between blue and yellow.<br />In Leber's hereditary optic neuropathy, vision loss usually occurs between the ages of 15 and 35. Some patients have abnormal cardiac conduction or abnormalities in the nervous system.<br />the diagnosis<br />• Physician's evaluation<br />• Sometimes genetic tests<br />Diagnosis by evaluation by a doctor. Testing can identify some, but not all, abnormal genes responsible for the disorders. Patients with Leber hereditary optic neuropathy may have an electrocardiogram (ECG) to evaluate the condition of the heart.<br />processing<br />Aids for low vision<br />No effective treatment is available yet, but some newer treatments are being studied. Limit alcohol consumption, which may affect the mitochondria, and avoid the use of tobacco products, which helps slow the rate of vision loss.<br />Magnifying lenses, large print and talking watches (low vision aids) can help patients with low or lost vision.<br />A genetic counseling may be necessary.<br />Patients with diseases of the heart or nervous system are referred to specialists.