Molecular and genetic basis of color blindness.
Molecular and genetic basis of color blindness


In this article, we will discuss about the molecular and genetic basis of color blindness. It is an X-linked recessive disease, inherited from mother to son. There are three types of color blindness. Red color blindness, blue color blindness and green color blindness. These cause by mutations in the opsins. The opsins for red and green color blindness present on sex chromosomes and for blue color, located on chromosome number 7. The monochromacy (person can perceive only one color) is a true color blindness. We will also discuss the potential treatment of the disease.


Color blindness, also known as color vision deficiency, is a condition that affects millions of people worldwide. It is characterized by the inability to perceive certain colors or distinguish between them accurately. This condition can significantly impact an individual’s daily life, affecting their ability to perform tasks that rely on color discrimination. Understanding the molecular and genetic basis of color blindness is crucial for developing effective treatments and interventions. In this article, we will explore the underlying mechanisms of color blindness and discuss recent advancements in this field.


Color blindness classified into different types, with the most common red-green color blindness. This type further divided into two subtypes: protanopia (lack of red cones) and deuteranopia (lack of green cones). Another type is blue-yellow color blindness, known as tritanopia, which caused by a deficiency in blue cone cells. Additionally, some individuals may experience complete color blindness, known as achromatopsia, where all cone cells affected.


The molecular basis of color blindness lies in the photoreceptor cells located in the retina of the eye. These cells, known as cones, are responsible for detecting and interpreting different wavelengths of light, which allows us to perceive colors. Cones contain photopigments, proteins that absorb light and initiate the signaling cascade that leads to color perception. The three types of cones are distinguished by the photopigments they contain: red cones (L cones), green cones (M cones), and blue cones (S cones). Each photopigment is encoded by a specific gene located on the X chromosome. Mutations in these genes can lead to the production of abnormal or non-functional photopigments, resulting in color vision deficiencies.

Molecular pathways of color blindness.
Molecular pathways of color blindness


Color blindness primarily an inherited condition, with the majority of cases X-linked recessive. Since the genes responsible for encoding photopigments located on the X chromosome, males more commonly affected by color blindness than females. Females have two X chromosomes, allowing for compensation if one of the genes mutated. In contrast, males have only one X chromosome, making them more susceptible to color vision deficiencies.

Several genes identified as causative factors for color blindness. The most common gene involved in red-green color blindness is the OPN1LW/OPN1MW gene, which encodes the red and green photopigments. Mutations in this gene can lead to the absence or altered function of these photopigments, resulting in color vision deficiencies.

Genetic basis of color blindness.
Genetic basis of color blindness


Advancements in molecular genetics have greatly contributed to our understanding of color blindness. The identification of specific genes and mutations associated with color vision deficiencies has allowed for improved diagnosis and genetic counseling. Additionally, gene therapy approaches explored as potential treatments for color blindness. Recent studies have shown promising results in animal models, where the introduction of functional genes restored color vision.


Neitz M, Neitz J. The genetics of normal and defective color vision. Vision Res. 2011;51(7):633-651. doi:10.1016/j.visres.2010.12.002

Sharpe LT, Stockman A, Jagle H, Nathans J. Opsin genes, cone photopigments, color vision, and color blindness. In: Gegenfurtner KR, Sharpe LT, eds. Color Vision: From Genes to Perception. Cambridge University Press; 1999:3-51.

Mancuso K, Hauswirth WW, Li Q, et al. Gene therapy for red-green colour blindness in adult primates. Nature. 2009;461(7265):784-787. doi:10.1038/nature08401

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