![]() RP can be inherited in the three major mendelian patterns, but can also present in isolated or simplex cases. 4 Due to the large number of causative genes and known phenotypic variance associated with RP, the disease’s clinical findings, onset and progression may differ considerably between affected individuals. Less-common clinical findings in patients with RP include cystoid macular edema, macular holes and epiretinal membrane formation. Other findings of RP include posterior subcapsular cataracts (50 percent of cases) 3 and photopsias. Thus, the visual field is progressively reduced in concentric rings, leading to tunnel vision and ultimately, central field loss in end-stage disease. Secondary changes in the retinal cellular milieu due to loss of rod cells eventually result in loss of cone cells. 1 Peripheral vision loss secondary to rod dysfunction occurs early in the disease course, although it may not be recognized by an affected individual. Usually the disease begins with damage and loss of rod cells, leading to nyctalopia and defective dark adaptation, which are the common initial concerns for patients. ![]() RP is characterized by progressive vision loss due to abnormalities of the retinal photoreceptor cells or the retinal pigment epithelial cells. Here, we’ll discuss the clinical findings, diagnostic modalities and current clinical trials associated with RP. According to RetNet ( ), a publicly available database of genes and loci mapped to inherited retinal diseases, at least 150 genes have been associated with syndromic and non-syndromic retinitis pigmentosa. ![]() ![]() Affecting approximately 14,000 individuals worldwide, RP represents one of the leading causes of vision loss, with a broad spectrum of genetic and phenotypic heterogeneity. Inherited retinal diseases, including retinitis pigmentosa, have been the subject of therapeutic clinical trials, including the safe delivery of gene therapy to the subretinal space, with encouraging results. ![]()
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