What Is Achromatopsia?
Achromatopsia is also known as total color blindness. Patients with achromatopsia cannot see the full spectrum of colors, but instead see everything in shades of black, white and grey. It is not an incredibly common condition, being found in about 1 out of every 40,000 births.
- 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
Acquired achromatopsia refers to color blindness that occurs later in life due to physical trauma or an underlying condition.
Congenital achromatopsia refers to color blindness that is present at birth, typically due to a malfunction of the retinal phototransduction pathway or a gene mutation.
- 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
If your child’s pediatrician suspects that they have achromatopsia, they will likely refer them to an ophthalmologist for diagnostic testing. Likewise if your primary care physician suspects that you have acquired achromatopsia, they will refer you to an ophthalmologist. Diagnostic testing may include an electroretinogram (ERG), which measures the function of the cells in the eye. Your doctor may also refer you or your child you a geneticist for genetic testing, which can reveal the gene mutations that lead to achromatopsia. In some cases, referral to a neurologist to rule out underlying neurological conditions can be necessary.
There is no cure for achromatopsia, but symptoms can be manageable with certain treatments. Treatment of achromatopsia depends on the cause. For congenital color blindness caused by gene mutations can be treated with gene therapy. A new therapy called eyeborg can help patients to perceive colors through sound waves.