Achromatopsia

What is achromatopsia?

Achromatopsia is an inherited disorder that affects vision and usually develops when one is a few months old. It is non-progressive and is characterized by partial/total lack of color vision. It is the most severe form of colorblindness since they typically only see black, white, and shades of gray. People with achromatopsia also usually have poor sharpness of vision (visual acuity), light sensitivity (photophobia), and involuntary eye movements (nystagmus). They may be farsighted (hyperopia) or nearsighted (myopia) as well. 
 
The visual issues associated with achromatopsia result from problems with the retina. The retina is a light-sensitive tissue and is located at the back of the eye. The retina has three types of cells in it that are responsible for color vision and helping people see in bright light. These cells are called cones. There are red cones, green cones, and blue cones. In achromatopsia, these cones do not function. Rods are the other type of light-receptor cell in the retina. Rods help people see in dark lighting.
 
 
There are two types of achromatopsia: complete and incomplete:
 
  • Complete achromatopsia: minimal to no function of the cone cells. People with complete achromatopsia have no perception of color and only see black, white, and some shades of gray.
  • Incomplete achromatopsia is milder and may allow for some color perception. People with incomplete achromatopsia have some cone cell function but still have severely impaired color vision.
 
 
Risk factors
 
  • Being a Pingelapese islander
  • Having parents who are both carriers of the mutated gene that causes achromatopsia 
  • Being from a region where there is a high rate of marriage between relatives
 
 
Diagnosis
Typically, an eye doctor (ophthalmologist) will be the one to diagnose achromatopsia. The doctor will take a look at your symptom history and if they suspect achromatopsia further examination and tests will be done. 
 
Some tests that may be done to diagnose achromatopsia include:
 
  • Color vision tests are done to look for any problems in one’s color vision. 
  • Genetic testing and looking at family history can be done to see if one’s parents are carriers of the gene mutation that causes achromatopsia and to look for any history of this condition in the family. 
  • Electroretinography can be done to detect any abnormal functioning of the retina and any problems with the cells in the retina (rods and cones).
  • Eye imaging tests can provide further evaluation of the function of a person’ eyes. 
  • Other vision tests may be done to check for other problems that may be associated with achromatopsia such as poor visual acuity, farsightedness, and nearsightedness.  
 
 
Treatment
There is no cure for achromatopsia. Research is currently being done on using gene therapy to treat this condition. Clinical trials may also give people suffering from this condition the potential to participate in new or experimental treatments. 
 
Some treatment methods that may be used to relieve symptoms include:
 
  • Eye-glasses 
  • Dark or red tinted glasses/contact lenses
  • Low vision aids
 
 
 
# ACHROMATOPSIA BY THE NUMBERS #
 
  • In the U.S. achromatopsia affects approximately 1 in every 33,000 people
  • Between 4-10% of Pingelapese islanders in the Eastern Caroline Islands of Micronesia have complete achromatopsia
  • Achromatopsia affects 1 in every 40,000 live births
  • Children with complete achromatopsia usually have 20/200 vision or less
  • Children with incomplete achromatopsia usually have slightly better vision (20/120-20/80)
  • A family with one child affected by achromatopsia has a 25% (1 in 4) chance of each pregnancy also being affected and a 50% chance that the child is a carrier of the gene mutation 
 
 
about achromatopsia
 
 
 

Sources:
  • "Achromatopsia.” American Association for Pediatric Ophthalmology and Strabismus, Mar. 2015. Web. 21 Aug. 2017.
  • “Achromatopisa.” National Institutes of Health U.S. National Library of Medicine. National Institutes of Health, 15 Aug. 2017. Web. 21 Aug. 2017.
  • “Understanding Achromatopsia.” The Achromatopsia Network, n.d. Web. 21 Aug. 2017.
  • “Achromatopsia.” U.S. National Library of Medicine. National Center for Biotechnology Information, 25 Feb. 2016. Web. 21 Aug. 2017.
  • “Facts About Color Blindness.” National Institutes of Health. National Eye Institute, Feb. 2015. Web. 21 Aug. 2017. 
  • “Poor color vision.” Mayo Clinic. Mayo Foundation for Medical Education and Research, 04 Nov. 2016. Web. 21 Aug. 2017. 

 

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