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Achromatopsia: Color Blindness

Achromatopsia: Color Blindness
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achromatopsia

What Is Achromatopsia?

Acrhomatopsia is the medical term for total color blindness. People who have achromatopsia cannot see the full spectrum of colors that exist. Instead, they see everything in shades of black, white, and grey. Total color blindness is not a very common condition. It is only found in one out of every 30,000 births worldwide.


What Causes Total Color Blindness?

  • Trauma to the retina
  • Damage to the thalamus or the cerebral cortex
  • Brain tumors
  • Abnormalities of the retina
  • Brain hemorrhage
  • Malfunction of the retinal phototransduction pathway
  • Gene mutations
  • Incestual reproduction

total color blindness

Types of Achromatopsia

Acquired Achromatopsia

Acquired achromatopsia is a form of total color blindness that can occur at any point in a person’s life due to physical trauma or an underlying medical condition.

Congenital Achromatopsia

Congenital achromatopsia is a form of total color blindness that is present immediately at birth. This type is usually the result of retinal phototransduction pathway or a gene mutation.

Symptoms

  • Inability to see various colors
  • Involuntary eye movement
  • Positioning head against light
  • Loss of sensory on one side of the body
  • Difficulty walking
  • Difficulty speaking
  • Problems recognizing familiar faces or people
  • Hemiparesis

achromatopsia

Diagnosing Total Color Blindness

Congenital achromatopsia is usually diagnosed very early in childhood. If your child’s pediatrician feels that they have total color blindness, they will refer them to an ophthalmologist for further diagnostic testing. Likewise, as an adult, if your primary care physician suspects that you have acquired total color blindness, they will refer you to an ophthalmologist for diagnosis. Diagnostic testing typically includes an electroretinogram (ERG). This test measures the function of the cells in your eyes. In congenital achromatopsia, the child may be referred to a geneticist for genetic testing. This can help reveal gene mutations that would lead to total color blindness. In rare cases, a neurologist may be needed to diagnose certain neurological conditions that can cause achromatopsia.

Treatment of Achromatopsia

There is no cure for total color blindness and most patients adapt to living with the condition. Some cases of congenital achromatopsia can be treated with gene therapy to make symptoms more manageable. Eyeborg is a new therapy that can help individuals with color blindness perceive colors through sound waves.

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