Leber Optic Atrophy

Leber Optic Atrophy

Article
Eye & Vision
Men's Health
+3
Contributed byKrish Tangella MD, MBAFeb 12, 2024

The topic Leber Optic Atrophy you are seeking is a synonym, or alternative name, or is closely related to the medical condition Leber Hereditary Optic Neuropathy.

Quick Summary:

  • Leber Hereditary Optic Neuropathy (LHON) is a genetic disorder that leads to loss of sight. The onset of LHON can occur at any age, although typically, the symptoms begin in the teens and twenties
  • Leber Hereditary Optic Neuropathy is a hereditary disorder, and therefore, inheriting a mutation in one of the many causative genes is the greatest risk factor for being diagnosed with the condition. If one already has the condition, certain toxins, environmental pollutants, and medications are known to exacerbate it
  • Leber Hereditary Optic Neuropathy is caused by mutations in MT-ND1, MT-ND4, MT-ND4L, and MT-ND6 genes. The MT in the gene nomenclature indicates “mitochondrial.” These genes are localized in the mitochondrial DNA of an individual
    • Mitochondria are cellular organelles that are the “powerhouses” of cells and sites of cellular respiration and energy synthesis
    • They carry their own DNA, which an individual inherits from the mother
  • These genes code for proteins that are involved in the mitochondrial function of energy generation. The exact mechanism of genetic mutations leading to Leber Hereditary Optic Neuropathy is still under scientific investigation
  • The pattern of inheritance of Leber Hereditary Optic Neuropathy is mitochondrial, and the inheritance occurs exclusively from the mother. During the fertilization process, the father’s nucleus enters the egg, and the latter provides the mitochondria for the developing embryo
  • The symptoms of LHON begin with blurring and clouding of vision, leading to loss of sharp focus, and then to loss of vision. Some affected individuals with “LHON Plus” exhibit additional symptoms that include tremors, impaired movement owing to muscle weakness and lack of coordination, and abnormalities of electrical conductivity in the heart
  • Some potential complications of the disorder are permanent loss of vision; those with “LHON Plus” may develop stroke, cardiac arrhythmia, and movement disorders
  • Early Leber Hereditary Optic Neuropathy is treated with vitamin E supplements and visual aids. Cessation of smoking and limiting exposure to environmental toxins can help limit damage to vision. This may also require a reassessment of one’s living and working conditions
  • Leber Hereditary Optic Neuropathy is an inherited disorder and there are no guidelines or methods to prevent its occurrence. If there is a positive family history of the condition, genetic testing of fetal cells and genetic counseling can help prospective parents understand the condition better. Smoking cessation and minimizing exposure to environmental toxins may help avoid aggravating the condition in the affected individuals
  • Leber Hereditary Optic Neuropathy is manageable with timely diagnosis and prompt, continual treatment. A delay or lack of treatment can lead to permanent loss of vision, as well as heart and brain related conditions (which are observed in some cases)

Please find comprehensive information on Leber Hereditary Optic Neuropathy regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention, prognosis, and additional useful information HERE.

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Krish Tangella MD, MBA picture
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Krish Tangella MD, MBA

Pathology, Medical Editorial Board, DoveMed Team

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