Treatments Being Developed in Retinitis Pigmentosa

2021 ◽  
pp. 150-154
Keyword(s):  
Retinitis Pigmentosa ◽  
Retinal Pigment Epithelial ◽  
Vision Loss ◽  
Platelet Rich Plasma ◽  
Retinal Pigment ◽  
Retinal Prostheses ◽  
Pigment Epithelial ◽  
Recent Developments ◽  
Severe Vision Loss ◽  
Experimental Approaches

Recent developments in understanding the pathophysiology of retinitis pigmentosa (RP) have shown that there have been new hopes in the treatment of this disease which can cause severe vision loss. Proven therapy for RP-associated photoreceptor loss and retinal pigment epithelial damage has not yet been reported. New or experimental approaches for the treatment of RP include platelet-rich plasma, gene therapy, transplantation of fetal retinal cells or stem cells, and electronic retinal prostheses.

scholarly journals Functional Assessment of Patient-Derived Retinal Pigment Epithelial Cells Edited by CRISPR/Cas9

2018 ◽  
Vol 19 (12) ◽  
pp. 4127 ◽  
Author(s):  
Leah Foltz ◽  
Sara Howden ◽  
James Thomson ◽  
Dennis Clegg
Keyword(s):  
Retinitis Pigmentosa ◽  
Retinal Pigment Epithelial ◽  
Retinal Pigment ◽  
Retinal Pigment Epithelial Cells ◽  
Splicing Factor ◽  
Wild Type ◽  
Rpe Cells ◽  
Pigment Epithelial ◽  
Apicobasal Polarity ◽  
Gene And Protein Expression

Retinitis pigmentosa is the most common form of inherited blindness and can be caused by a multitude of different genetic mutations that lead to similar phenotypes. Specifically, mutations in ubiquitously expressed splicing factor proteins are known to cause an autosomal dominant form of the disease, but the retina-specific pathology of these mutations is not well understood. Fibroblasts from a patient with splicing factor retinitis pigmentosa caused by a missense mutation in the PRPF8 splicing factor were used to produce three diseased and three CRISPR/Cas9-corrected induced pluripotent stem cell (iPSC) clones. We differentiated each of these clones into retinal pigment epithelial (RPE) cells via directed differentiation and analyzed the RPE cells in terms of gene and protein expression, apicobasal polarity, and phagocytic ability. We demonstrate that RPE cells can be produced from patient-derived and corrected cells and they exhibit morphology and functionality similar but not identical to wild-type RPE cells in vitro. Functionally, the RPE cells were able to establish apicobasal polarity and phagocytose photoreceptor outer segments at the same capacity as wild-type cells. These data suggest that patient-derived iPSCs, both diseased and corrected, are able to differentiate into RPE cells with a near normal phenotype and without differences in phagocytosis, a result that differs from previous mouse models. These RPE cells can now be studied to establish a disease-in-a-dish system relevant to retinitis pigmentosa.

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