fotopigmentdeficiëntie

Fotopigmentdeficiëntie, also known as photopigment deficiency, refers to a group of inherited conditions affecting the photoreceptor cells in the retina. These cells, rods and cones, contain specialized proteins called photopigments that are responsible for capturing light and initiating the process of vision. When these photopigments are not produced correctly or are absent, it leads to impaired vision. The specific photopigment affected determines the type and severity of the visual impairment.

The most common forms of photopigmentdeficiëntie are related to color vision deficiencies, often referred to as color blindness. These occur when the cone cells, responsible for color vision, lack or have altered photopigments. Red-green color blindness, the most prevalent type, results from issues with the photopigments sensitive to red and green wavelengths of light. Blue-yellow color blindness is less common and involves defects in the photopigments sensitive to blue and yellow light.

More severe forms of photopigmentdeficiëntie can lead to conditions like retinitis pigmentosa, a progressive degenerative disease of the retina that affects both rod and cone photoreceptors. This can result in night blindness, peripheral vision loss, and eventually central vision loss. Congenital stationary night blindness is another example where rod photopigments are dysfunctional, causing difficulty seeing in low light conditions from birth, without progressive vision loss. Diagnosis typically involves specialized eye examinations, including color vision testing and electroretinography. There is currently no cure for most photopigmentdeficiëntie, but management focuses on vision aids and strategies to cope with visual limitations.