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The genes also play a role in the development and stability of the retina by influencing the structure and function of both the rod photoreceptor cells and supporting cells called the retinal pigmented epithelium. Mutations that affect the normal function of these genes can result in retinitis pigmentosa and resultant vision loss. [citation needed]
A variety of mutations in the TYMP gene have been discovered that lead to the onset of mitochondrial neurogastrointestinal encephalopathy syndrome. [2] The TYMP gene is a nuclear gene, however, mutations in the TYMP gene affect mitochrondrial DNA and function. [2] Mutations in this gene result in a loss of thymidine phosphorylase activity. [2]
The third gene array shows a deuteranopia genotype; the fourth shows a normal color vision genotype. When unequal recombination happens with breaks between the genes (depicted by blue lines), a gene can be essentially deleted from one of the chromosomes. This gene deletion leads to protanopia or deuteranopia (congenital red–green dichromacy).
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.
Neuropathy, ataxia, and retinitis pigmentosa, also known as NARP syndrome, is a rare disease with mitochondrial inheritance that causes a variety of signs and symptoms chiefly affecting the nervous system [1] Beginning in childhood or early adulthood, most people with NARP experience numbness, tingling, or pain in the arms and legs (sensory neuropathy); muscle weakness; and problems with ...
The effect of double heterozygous mutations in the genes MITF and PAX3 in WS1 and WS2 can increase the pigment-affected symptoms. It leads to the conclusion that the double mutation of MITF is associated with the extremity of Waardenburg syndrome and may affect the phenotypes or symptoms of the syndrome.
Behr syndrome is autosomal recessive which means the defective gene is located on an autosome, and two copies of the gene - one inherited from each parent - are required to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but are usually not affected by the ...
Having two eyes allows the brain to determine the depth and distance of an object, called stereovision, and gives the sense of three-dimensionality to the vision. Both eyes must point accurately enough that the object of regard falls on corresponding points of the two retinas to stimulate stereovision; otherwise, double vision might occur.