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The cause of blue–yellow color blindness is not analogous to the cause of red–green color blindness, i.e. the peak sensitivity of the S-opsin does not shift to longer wavelengths. Rather, there are 6 known point mutations of OPN1SW that degrade the performance of the S-cones. [46] The OPN1SW gene is almost invariant in the human population.
Males are more likely to inherit red–green color blindness than females, because the genes for the relevant opsins are on the X chromosome. [1] Screening for congenital red–green color blindness is typically performed with the Ishihara or similar color vision test. [1] It is a lifelong condition, and has no known cure or treatment. [1]
Gene therapy is a general treatment for genetic disorders; it uses viral vectors to carry typical genes into cells (e.g. cone cells) that are not able to express functional genes (e.g. photopsins). It may be possible to restore color vision by adding missing opsin genes – or a functional copy of the entire gene complex – into the cone cells.
Monochromacy (from Greek mono, meaning "one" and chromo, meaning "color") is the ability of organisms to perceive only light intensity without respect to spectral composition. Organisms with monochromacy lack color vision and can only see in shades of grey ranging from black to white. Organisms with monochromacy are called monochromats.
Achromatopsia, also known as rod monochromacy, is a medical syndrome that exhibits symptoms relating to five conditions, most notably monochromacy.Historically, the name referred to monochromacy in general, but now typically refers only to an autosomal recessive congenital color vision condition.
The gene duplication is present in about 50% of X-chromosomes, so is present in 50% of males and at least once 75% of females. It caused by the same mechanism that causes congenital red-green color blindness, the most common form of color blindness.
The first retinal gene therapy to be approved by the FDA was Voretigene neparvovec in 2017, which treats Leber's congenital amaurosis, a genetic disorder that can lead to blindness. These treatments also use subretinal injections of AAV vector and are therefore foundational to research in gene therapy for color blindness. [2] [3]
A genetic disorder is a health problem caused by ... disorders with a single genetic cause, ... such as male pattern baldness and red–green color blindness.