Achromatopsia is a rare hereditary condition characterized by a decreased ability to see colors. It is often referred to as color blindness. However, it is a far more severe form of the disorder.
Achromatopsia is caused by a mutation of the CNGA3 and CNGB3 genes located on chromosome 8 for many subtypes. As a result, individuals with Achromatopsia have significantly reduced vision and typically have a maximum visual field of 3-5 degrees compared to a standard visible lot of 180-200 degrees.
People with Achromatopsia have difficulty adapting to low or high lighting. Some individuals may also experience mild photophobia or light sensitivity, even though Achromatopsia is not a form of blindness.
Most individuals diagnosed with Achromatopsia also have nystagmus, an involuntary eye movement that causes blurry vision. As a result, it can be challenging to obtain an accurate diagnosis.
Over half a million people worldwide suffer from various types of Achromatopsia, one of the most common forms of color blindness.
Symptoms of Achromatopsia vary in severity but can include extreme difficulty distinguishing different colors and a lack of spatial orientation and depth perception.
Color-blind glasses are specially designed to help improve color discrimination in people with Achromatopsia.
In rare cases, people with Achromatopsia may also experience reduced hearing, epileptic seizures, and visual hallucinations.
Early diagnosis of Achromatopsia is beneficial as it may reduce the effects of the disorder.
Achromatopsia can severely impact individuals’ quality of life or cause psychological distress, as it often affects their ability to participate effectively in society.
Fortunately, advancements in genetic testing have allowed for more early diagnoses of Achromatopsia, which helps treat and manage the condition better.
