In the living cell, DNA undergoes frequent chemical change, especially when it is being replicated (in S phase of the eukaryotic cell cycle). Most of these changes are quickly repaired. Those that are not result in a mutation. Thus, mutation is a failure of DNA repair.
Here is a story about a patient of achromatoblepsia. she named Heather.
My name is Heather and I’m a rod monochromat, and have Incomplete Achromatoblepsia. My parents first noticed my vision problems when I was a baby and I’d always stare at the sun, which was most likely the only thing I could see on a bright sunny day. So my mom put large brimmed bonnets on me. I would also squint in bright light and the nystagmus was apparent early on too.
After learning to walk I would often run into glass windows and doors that lead outside. I’d trip over curbs and cracks. And of course I couldn’t learn my colors. So my parents were told to go to a specialist in Kansas City, MO and at age 3-4 I was diagnosed with “Cone dystrophy”, which years later I realized after further research was a broad diagnosis, and that I was in fact an Achromat.
1.What is achromatoblepsia?
Achromatoblepsia is a medical syndrome that exhibits symptoms relating to at least five conditions. The term may refer to acquired conditions such as cerebral achromablepsia, also known as color agnosia, but it typically refers to an autosomal recessive congenital color vision condition, the inability to perceive color and to achieve satisfactory visual acuity at high light levels (typically exterior daylight). The syndrome is also present in an incomplete form which is more properly defined as dyschromatopsia. It is estimated to affect 1 in 40,000 live births worldwide.
2.What symptoms of achromatoblepsia?
Achromatopsia is the inability to see color. In the most severe form of the disease, called complete achromatopsia, the patient cannot see any color at all. Incomplete achromatopsia is a milder form of the disease where the patient has impaired ability to see color rather than a complete loss of color vision.
Other vision problems may also occur, and these can vary in severity among patients, depending on whether the patient has complete achromatopsia or incomplete achromatopsia. These symptoms may include blurred vision, nystagmus (involuntary eye movements, such as shaking or wobbling), or photophobia, which is a heightened sensitivity to light that may cause discomfort or pain.