Achromatopsia Report

Achromatopsia is a rare retinal alteration, transmitted in an autosomal recessive manner and characterized by partial or complete color blindness, photophobia, nystagmus (involuntary and repetitive movements of the eyeballs) and severe reduction of visual acuity. The mechanism of vision is extremely complex and involves, among other factors, two types of cells called cones and rods (photoreceptors). The former are responsible for daytime vision and are concentrated in the center of the retina, in an area called macula. Thanks to the cones we are able to adapt to the various light intensities, perceive the colors and discriminate the details of the images. The rods, placed on the periphery of the retina, allow night vision, thanks to a very high sensitivity to light, but give rise to an achromatic vision (i.e. they do not allow to discriminate the various colors, but only the different shades of gray existing between black and white). In subjects suffering from achromatopsia, mutations