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The polymorphisms may be in an OCA2 regulatory sequence, where they may influence the expression of the gene product, which in turn affects pigmentation. [13] A specific mutation within the HERC2 gene, a gene that regulates OCA2 expression, is partly responsible for blue eyes. [9] Other genes implicated in eye color variation are SLC24A4 [22 ...
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.
Ocular albinism is a form of albinism which, in contrast to oculocutaneous albinism, presents primarily in the eyes. [1] There are multiple forms of ocular albinism, which are clinically similar. [2]: 865 Both known genes are on the X chromosome.
Retinitis pigmentosa (RP) is a member of a group of genetic disorders called inherited retinal dystrophy (IRD) that cause loss of vision. [1] Symptoms include trouble seeing at night and decreasing peripheral vision (side and upper or lower visual field). [1]
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.
A number of genes in Drosophila, like the hook gene that alter ocular pigment granules have been shown to affect lysosomal delivery. [10] Moreover, it has been found that in normal conditions, melanosomal proteins traffic normally to late endosomes, while in the absence of OA1, they continue to accumulate in the mature melanosomes.
The reason boils down to genes. 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 ...
Familial exudative vitreoretinopathy (FEVR, pronounced as fever) is a genetic disorder affecting the growth and development of blood vessels in the retina of the eye. This disease can lead to visual impairment and sometimes complete blindness in one or both eyes. FEVR is characterized by incomplete vascularization of the peripheral retina.