Løken-Senior Syndrome Case Study

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Løken-Senior syndrome is “a rare, ciliopathic, autosomal recessive disorder characterized by nephronophthisis and progressive eye disease (“Løken-Senior Syndrome” 2003). Estimates show that most rare diseases have identified genetic origins (“Rare Disease” n.d., para 5). In addition, genetic research has suggested that a large number of genetic disorders that were not previously identified as related are actually highly related in the genotypical root cause of the disorders. Løken-Senior syndrome is a type of genetic disorder that affects more than one part of the body, and known as a ciliopathy (“Senior-Løken syndrome” n.d, para 2.).
A ciliopathy is a disorder of the cilia of certain cells. Cilia, created by the use of over 600 proteins, function independently in a sensory role facilitating specific cell-to-cell signaling, and also have a secretory role where a released protein is to have an effect downstream of the flow of fluid in certain cells ("Cyliopathy," n.d., para. 3). Of importance to Løken-Senior syndrome is the secretory role cilia play in transferring of nourishment to non-vascularized cells behind the retina. Also, their sensory role which makes them necessary for the perception of input such as vision ("Cyliopathy," n.d., para. 3). In addition, they are also important for the structures and functions of
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This condition causes problems that are similar to retinitis pigmentosa, including greater light sensitivity, involuntary eye movements, and an extreme case of farsightedness, the cornea may be cone-shaped and abnormally thin, and a characteristic sign is the repeated pressing, and rubbing of the eyes with a knuckle or finger. Genetics, patterns of vision loss, and related eye abnormalities have identified at least 13 types of this condition (“Leber congenital amaurosis.” 2010). Treatment is mainly consists of correction and low-vision

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