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The goal of gene therapy studies is to virally supplement retinal cells expressing mutant genes associated with the retinitis pigmentosa phenotype with healthy forms of the gene; thus, allowing the repair and proper functioning of retinal photoreceptor cells in response to the instructions associated with the inserted healthy gene.
The brain and eyes, for example, can be significantly impacted by mutations in this gene and cause disorders such as Microphthalmia and Holoprosencephaly. [39] Microphthalmia is a condition that affects the eyes, which results in small, underdeveloped tissues in one or both eyes. [ 39 ]
Also called functionalism. The Darwinian view that many or most physiological and behavioral traits of organisms are adaptations that have evolved for specific functions or for specific reasons (as opposed to being byproducts of the evolution of other traits, consequences of biological constraints, or the result of random variation). adaptive radiation The simultaneous or near-simultaneous ...
Leber's hereditary optic neuropathy (LHON) is a mitochondrially inherited (transmitted from mother to offspring) degeneration of retinal ganglion cells (RGCs) and their axons that leads to an acute or subacute loss of central vision; it predominantly affects adult males, and onset is more likely in younger adults.
Dichromacy in humans is a form of color blindness (color vision deficiency). Normal human color vision is trichromatic, so dichromacy is achieved by losing functionality of one of the three cone cells. The classification of human dichromacy depends on which cone is missing:
In many cases, only one eye is affected and the person may not be aware of the loss of color vision until the examiner asks them to cover the healthy eye. People may also engage in "eccentric viewing" using peripheral vision to compensate for central vision loss characteristic in genetic, toxic, or nutritional optic neuropathy.
As of 2010, as many as 16 genes have been associated with eye color inheritance. 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.
Medical genetics is the application of genetics to medical care. It overlaps human genetics, for example, research on the causes and inheritance of genetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counseling of individuals with genetic disorders would be considered part ...