Biophysical-Genetic Aspects of Congenital Dyschromatopsia: A Descriptive Review

Abstract

Congenital dyschromatopsia, better known as color blindness, is the name given to a defect in color vision, linked to gender, where there is difficulty in detecting and recognizing different colors. This condition, which can occur due to trauma, tumors, injuries and even retinal detachment, is predominantly hereditary, resulting from a deficit in the production of genes encoding photopsins. Therefore, the present study aims to analyze the biophysical and genetic aspects surrounding dyschromopsia, describing the related mechanisms and highlighting the influences of this dysfunction on the lives of patients affected by this condition. To develop the present study, original articles were used, written in English and Portuguese, published in the last 34 years, in the main bibliographic databases, such as SciELO and PubMed, in order to guarantee greater reliability of the information presented in the project. It was then realized that congenital dyschromatopsia is a dysfunction that mainly affects men, due to its recessive character linked to the X chromosome. Furthermore, it generates visual changes that manifest themselves in accordance with the characteristic of the dysfunction, which can be deuteranopia, trypanopia or protanopia. Although it has a strong associated genetic character, this dysfunction can currently be corrected, which contributes to improving the quality of life of patients with it, as well as their inclusion in the social environment, which is sometimes hampered by the visual alteration presented. This way, technology is a great ally in advances in visual health, through the creation of lenses, such as ColorMax and EnChroma, as well as inclusive projects, such as the Color Identification System for Color Blind, ColorADD and Feelipa, which expand access to healthcare for the affected population and restore visual quality, which was, until then, compromised by the disease.