Leber's Disease - Medtick

Leber’s Disease

What is it?

An inherited condition causing sudden vision loss mainly affects men around age 15 – 25 years old.

  • Women tend to be affected at an older age, often around times of oestrogen loss. For unknown reasons, males are affected much more often than females and there is approximately a 50% chance of losing vision if you are male and a 10% chance if you are female.
  • Male carriers are therefore at a much higher risk of being affected and the reason for this gender bias is still unclear.
  • It occurs because of unknown  changes  (mutations) in the energy part of the cells in the eye (mitochondria).
  • Mitochondria produce most of the energy that cells need to function (convert the energy from  food into a form that cells can use) and these inherited mutations disrupt the mitochondria and cause cells in the retina to stop working and/or causing weakness and/or death of cells in the optic nerve (the nerve that connects from the eye to the brain).

Cause

  • These mutations are at nucleotide positions 11778 G to A, 3460 G to A and 14484 T to C, respectively in the ND4, ND1 and ND6 subunit genes of complex I of the oxidative phosphorylation chain in mitochondria. (Oxidative phosphorylation uses a series of four large multienzyme complexes, which are all embedded in the inner mitochondrial membrane to convert oxygen and simple sugars to energy).
  • Family history: From Mother (carrier)  to offspring (Men can be affected, but they cannot pass the condition on to their children)

Medication

Symptoms

  • Sudden visual loss, first in one eye, and then a few weeks to months later in the other or suddenly both?
  • Blurring and clouding of vision (usually the first symptoms) affecting the ones centrel vision?
  • Severe loss of sharpness of vision and color vision over time?
  • Loss of ability to complete  tasks such as reading, driving, and recognizing faces?
  • A growing blind spot?

Complications /Information to beware of/General tips:

Medical Emergency Condition

And/or do not wait, phone for an ambulance if have or develop:

  • Brain’s ability to control the movement of muscles, tremors,
  • Heart arrhythmia (problems with heartbeat, heart palpitations)

This condition may show similar symptoms to:

Please talk to your healthcare professional (i.e. Medical Doctor/Pharmacist) for further advice

Detailed Information

Please copy and paste any key words from the title: Leber’s Disease in the following respective 'Medtick References and/or Sources' to find out more about the disease (this also may include diagnosis tests and generic medical treatments).

  • NHS

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  • Medscape

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  • National Organisation of Rare Diseases

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