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Some of the eye-color genes include OCA2 and HERC2. [9] [10] The earlier belief that blue eye color is a recessive trait has been shown to be incorrect, and the genetics of eye color are so complex that almost any parent-child combination of eye colors can occur. [11] [12] [13]
The results so far give them hope that intervening early in other childhood genetic eye conditions could offer the "greatest benefit" and ultimately transform children's lives. Show comments ...
Rarer genetic conditions causing color blindness include congenital blue–yellow color blindness (tritan type), blue cone monochromacy, and achromatopsia. Color blindness can also result from physical or chemical damage to the eye, the optic nerve, parts of the brain, or from medication toxicity. [2] Color vision also naturally degrades in old ...
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 senior lecturer in biomolecular sciences at Liverpool John Moores University said, "What we know now is that eye color is based on 12 to 13 individual variations in people's genes... These genes ...
Waardenburg syndrome is a group of rare genetic conditions characterised by at least some degree of congenital hearing loss and pigmentation deficiencies, which can include bright blue eyes (or one blue eye and one brown eye), a white forelock or patches of light skin.
HERC2 is a giant E3 ubiquitin protein ligase, implicated in DNA repair regulation, pigmentation and neurological disorders.It is encoded by a gene of the same name belonging to the HERC family, which typically encodes large protein products with C-terminal HECT domains and one or more RCC1-like (RLD) domains.
This form of color blindness is sometimes referred to historically as daltonism after John Dalton, who had congenital red–green color blindness and was the first to scientifically study it. In other languages, daltonism is still used to describe red–green color blindness, but may also refer colloquially to color blindness in general.