Bases moleculares e genéticas da discromatopsia: uma análise de literatura científica

Abstract

Introduction: Dyschromatopsia (DVC), popularly known as color blindness, is characterized by changes in color perception due to the involvement of retinal cones, which are the cells responsible for detecting different shades. DVCs can be classified as congenital or acquired, the red-green congenital form being the most common. This variant presents recessive inheritance linked to the X chromosome, which justifies its higher prevalence in men. It is also the most common single locus genetic disorder in the population, whose high mutation rate favors the emergence of multiple genetic rearrangements associated with chromatic vision deficiency. Objectives: To analyze the genotypic and phenotypic manifestation of dyschromatopsia in the human organism. Methodology: A narrative review of the literature. Research conducted by PubMed, ScienceDirect, Scielo and BVS during the period from 2020 to 2025 in Portuguese, English and Spanish was included in this article. Conclusion:  The deepening of genetic knowledge allowed us to understand the correlation between genotype and phenotype, revealing a spectrum ranging from mild forms of anomalous trichromacy to severe dichromacies. In addition, the identification of specific haplotypes allowed a better understanding about chromatic deficiency and other eye conditions. Although there are no curative therapies yet, advances in molecular genetics have improved diagnosis and made possible new therapeutic interventions aimed at chromatic vision deficiencies.