Jason Madigan

Introduction and Overview of Retinitis Pigmentosa

What is Retinitis Pigmentosa?
Retinitis Pigmentosa (RP) is the decline of functionality of the rods and cones in the retina. Retinitis Pigmentosa comes in three forms. The three forms are autosomal dominant, autosomal recesssive, and X- linked RP (Fahim, Daiger, Weleber, 2013.) This disease is the result of mutations in a very large group of genes that will be mentioned later. Because there are such a large number of contributing factors it it hard to find and treat the direct cause. Although there are multiple origins the outcome is typically the same for those diagnosed with RP. The difference is just the degree of vision loss.
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The prevalence of this disease has a very wide range. Retinitis Pigmentosa occurs in about 1 in every 2,500 people to 1 in every 7000 people. The reason for this extremely wide range is that there is not a worldwide definition of RP (Parmeggiani, 2011). Like it was stated before, RP is a vague label for a large number of disorders involving the dysfunction of the cones and rods. Although there is a large prevalence this disease is still considered rare. It is not rare in terms of symptoms. It is rare in terms of the mutation that causes the symptoms.

Diagnosis and Treatment