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  • Essay / Stargardt Disease Essay - 1021

    Stargardt disease or also known as fundus flavimaculatus, is a hereditary form of macular degeneration that causes vision loss in an accelerated manner, usually up to legal blindness. Macular degeneration is caused by “deterioration of the central part of the retina, the inner, back layer of the eye that records the images we see and sends them via the optic nerve from the eye to the brain. The central part of the retina, known as the macula, is responsible for focusing the eye's central vision and controls our ability to read, drive a car, recognize faces or colors, and see objects. objects in the smallest details. (http://www.macular.org/what-macular-degeneration) Signs of Stargardt disease can be seen as early as six to twelve years old. The disease stabilizes shortly after a rapid reduction in visual acuity. Stargardt disease is a genetic disorder caused by the death of photoreceptor cells located in the central area of ​​the retina called the macula. Karl Stargardt discovered the disease in 1909 and the cause of the disease was not discovered until 1997. The disease occurs because a mutation in the ABCA4 gene causes production of a dysfunctional protein that cannot carry out transport of energy and coming from the photoreceptor cells of the retina. is a genetic disease inherited in an autosomal recessive manner. The disease is hereditary when both parents carry the recessive gene. The parents are usually only carriers and therefore are not affected; however, each of their descendants shows a 25 percent change in the inheritance of the two copies of the Stargardt gene needed to cause the disease. Researchers have found that about 5 percent of the human population carries genetic mutations that cause inherited retinal diseases...... middle of paper ......ethanolamine, forming a complex known as N -retinylidene-PE to facilitate trans-retinal transport of light from the disc to the photoreceptor cytoplasm. In the mouse study, it was found that N-RPE is converted to A2E, a major component of lipofuscin. The A2E produced then accumulates in the RPE, which dissolves cell membranes and destroys the RPE cells that store it. In conclusion, Stargardt disease is a hereditary disease from parents who are both carriers. The ABCA4 gene mutation causes the disease and, at the moment, there is no cure or treatment. Some research shows that exposure to bright light can trigger retinal damage that occurs in Stargardt disease; therefore, patients are generally advised to wear appropriate glasses that block 100% of UV rays to reduce this phenomenon. This advice is currently the only one given to patients with the disease.