Stargardt Disease Essay

Stargardt disease or also known as fundus flavimaculatus, is an inherited form of macular degeneration that causes vision loss in an accelerated way usually to the point of legal blindness. Macular degeneration is caused by “the deterioration of the central portion of the retina, the inside back layer of the eye that records the images one sees and sends them via the optic nerve from the eye to the brain. The retinas central portion, known as the macula, is responsible for focusing central vision in the eye, and it controls our ability to read, drive a car, recognize faces or colors, and see objects in fine detail.” (http://www.macular.org/what-macular-degeneration) One can see signs of Stargardt disease starting with the ages between six and twelve years old. The disease plateaus shortly after rapid reduction in visual acuity. Stargardt disease is a genetic condition caused by the death of photoreceptor cells in the central area of the retina called the macula. Karl Stargardt discovered the disease in 1909 and the cause of the disease was no discovered until 1997. The disease occurs because a mutatuion in the ABCA4 gene causes a production of dysfunctional protein that cannot perform energy transport and from photoreceptor cells in the retina.

Stargardt disease is a genetic disease that is inherited as an autosomal recessive trait. The disease is inherited when both parents are carriers of the recessive gene. Parents are typically only carriers and are, therefore, unaffected; however, each of their offspring has a 25 percent change of inheriting the two copies of the Stargardt gene needed to cause the disease. Researchers have found that about 5 percent of the human population carry gene mutations causing inherited retinal disea...

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...ethanolamine, forming a complex known as N-retinylidene-PE to facilitate the all-trans retinal transport from the disk lumen to the photoreceptor cytoplasm. In the mice study it was found that N-RPE is converted into 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 in an inherited disease from parents that are both carriers. Mutation in ABCA4 gene is what causes the disease and at the moment there is no cure or treatment for it. Some research shows that exposure to bright light may trigger the retinal damage that occurs in Stargardt disease; therefore, patients are typically advised to wear proper eyewear that blocks 100 percent of UV light to reduce this. This advice is currently the only one given to patients of the disease.