achromatopsia

Achromatopsia (ACHM) is a rare inherited retinal disorder that affects the eye’s cone cells. This condition leads to significant color blindness, meaning that people with achromatopsia have difficulty seeing colors. It is also associated with nystagmus (involuntary eye movements) and photophobia (sensitivity to light). Because cone cells are responsible for sharp and detailed vision, their absence or impairment results in severely reduced visual acuity. The condition is present from birth as it is inherited in an autosomal recessive manner, which means that a person needs to inherit two copies of the altered gene, one from each parent, to develop the disorder.

People with achromatopsia typically experience complete or partial color blindness. They often have nystagmus, which causes rapid, uncontrolled eye movements, and photophobia, a heightened sensitivity to bright light. Additionally, they suffer from severely reduced visual clarity due to the impaired function of cone cells.

Achromatopsia is caused by genetic changes that affect the function of cone cells in the retina. It is inherited in an autosomal recessive pattern, meaning that a person must receive a defective gene from both parents to develop the condition.

Information about treatment options is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.