Achromatopsia is a rare inherited retinal disease that causes color blindness and other symptoms, including severe light sensitivity (photophobia), involuntary eye movements (nystagmus) and reduced vision. This disease affects the light-sensitive cells of the retina in the posterior part of the eye. When working properly, these cells provide color vision and help us see in bright light.

ACHROMATOPSIA affects approximately 1 in 30,000 people worldwide. The most common genes associated with this disease are CNGB3 and CNGA3 - mutations in them cause about 75 percent of cases. Mutations in GNAT2, PDE6C and PDE6H can also cause the disease.

There are two forms of achromatopsia with different symptoms. In incomplete achromatopsia, some colors can be seen. In complete achromatopsia, color blindness is complete, so only black, white and gray are seen. Complete achromatopsia occurs much more often than incomplete achromatopsia. In addition to color blindness, this disease can have the following symptoms:

• Visual acuity varies from 0.1 and worse for complete achromatopsia, and up to 0.25 for incomplete achromatopsia.
• Sensitivity to bright light (photophobia), so vision in daylight is impaired. Bright light can be unpleasant and even painful. Sometimes this is called day blindness.
• Nystagmus, involuntary eye movement. Constant eye movement with nystagmus can also affect vision, which is often noticeable to others.
• Refractive errors, such as farsightedness (hyperopia) or nearsightedness (myopia).
• In the early stages of the disease, the eye fundus may be normal. Later, patients may have retinal pigment epithelium atrophy.

The symptoms and severity vary in different people, but achromatopsia does not lead to complete vision loss and usually has a stable character over time and does not progress.

Rarely, achromatopsia can develop in later life. For example, cerebral achromatopsia can develop as a result of brain damage caused by a stroke. Other types of color blindness can occur due to eye diseases, including cataract, glaucoma and age-related macular degeneration.

The visual effects of achromatopsia can affect the development of a child. Therefore, it is important to seek medical help when the above signs or symptoms appear.

Phone numbers of the Filatov Institute:

+38 (048) 707-23-53 - registry

+38 (048) 794-17-98 - help desk