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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]
Rod monochromacy (Achromatopsia), when all three of the cones are non-functional and therefore photopic vision (and therefore color vision) is disabled. Monochromacy of photopic vision is a symptom of both Cone Monochromacy and Rod Monochromacy, so these two conditions are typically referred to collectively as monochromacy. [1] [2]
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.
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:
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 ...
Gene therapy is designed to insert a copy of a corrected gene into retinal cells. The hope is to return cell function back to normal and the treatment has the potential to stop disease progression. This therapy will not restore impaired vision back to normal. The research is being undertaken by a partnership between Sanofi and Oxford BioMedica.
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