scholarly journals Preserved para-arteriole retinal pigment epithelium (PPRPE) in retinitis pigmentosa.

1982 ◽  
Vol 66 (1) ◽  
pp. 26-30 ◽  
Author(s):  
J R Heckenlively
Keyword(s):  
Retinal Pigment Epithelium ◽  
Retinitis Pigmentosa ◽  
Pigment Epithelium ◽  
Retinal Pigment

scholarly journals Pathophysiological features of the visual cycle, cascade and metabolic pathways in retinitis pigmentosa

2021 ◽  
Vol 14 (1) ◽  
pp. 80-88
Author(s):  
M. E. Weener ◽  
D. S. Atarshchikov ◽  
V. V. Kadyshev ◽  
I. V. Zolnikova ◽  
A. M. Demchinsky ◽  
...  
Keyword(s):  
Retinal Pigment Epithelium ◽  
Literature Review ◽  
Retinitis Pigmentosa ◽  
Metabolic Pathways ◽  
Pigment Epithelium ◽  
Retinal Pigment ◽  
Visual Signal ◽  
Visual Cycle ◽  
Target Treatment ◽  
Interphotoreceptor Matrix

This literature review offers a detailed description of the genes and proteins involved in pathophysiological processes in isolated retinitis pigmentosa (RP). To date, 84 genes and 7 candidate genes have been described for non-syndromic RP. Each of these genes encodes a protein that plays a role in vital processes in the retina and / or retinal pigment epithelium, including the cascade of phototransduction (transmission of the visual signal), the visual cycle, ciliary transport, the environment of photoreceptor cilia and the interphotoreceptor matrix. The identification and study of pathophysiological pathways affected in non-syndromic RP is important for understanding the main pathogenic ways and developing approaches to target treatment.

Transplantation of intact sheets of fetal neural retina with its retinal pigment epithelium in retinitis pigmentosa patients

2002 ◽  
Vol 133 (4) ◽  
pp. 544-550 ◽  
Author(s):  
Norman D Radtke ◽  
Magdalene J Seiler ◽  
Robert B Aramant ◽  
Heywood M Petry ◽  
Diane J Pidwell
Keyword(s):  
Retinal Pigment Epithelium ◽  
Retinitis Pigmentosa ◽  
Pigment Epithelium ◽  
Retinal Pigment ◽  
Neural Retina

scholarly journals Missense Mutations in a Retinal Pigment Epithelium Protein, Bestrophin-1, Cause Retinitis Pigmentosa

2009 ◽  
Vol 85 (5) ◽  
pp. 581-592 ◽  
Author(s):  
Alice E. Davidson ◽  
Ian D. Millar ◽  
Jill E. Urquhart ◽  
Rosemary Burgess-Mullan ◽  
Yusrah Shweikh ◽  
...  
Keyword(s):  
Retinal Pigment Epithelium ◽  
Retinitis Pigmentosa ◽  
Pigment Epithelium ◽  
Retinal Pigment ◽  
Missense Mutations

Autosomal Recessive Retinitis Pigmentosa With Preserved Para-arteriolar Retinal Pigment Epithelium

1994 ◽  
Vol 118 (4) ◽  
pp. 430-439 ◽  
Author(s):  
L. Ingeborgh van den Born ◽  
Simone van Soest ◽  
Mary J. van Schooneveld ◽  
Frans C.C. Riemslag ◽  
Paulus T.V.M. de Jong ◽  
...  
Keyword(s):  
Retinal Pigment Epithelium ◽  
Retinitis Pigmentosa ◽  
Autosomal Recessive ◽  
Pigment Epithelium ◽  
Retinal Pigment

scholarly journals Gene Correction Recovers Phagocytosis in Retinal Pigment Epithelium Derived from Retinitis Pigmentosa-Human-Induced Pluripotent Stem Cells

2021 ◽  
Vol 22 (4) ◽  
pp. 2092
Author(s):  
Ana Artero-Castro ◽  
Kathleen Long ◽  
Andrew Bassett ◽  
Almudena Ávila-Fernandez ◽  
Marta Cortón ◽  
...  
Keyword(s):  
Stem Cells ◽  
Retinal Pigment Epithelium ◽  
Retinitis Pigmentosa ◽  
Induced Pluripotent Stem Cells ◽  
Pluripotent Stem Cells ◽  
Pigment Epithelium ◽  
Retinal Pigment ◽  
Tyrosine Kinase Receptor ◽  
Gene Correction ◽  
Induced Pluripotent

Hereditary retinal dystrophies (HRD) represent a significant cause of blindness, affecting mostly retinal pigment epithelium (RPE) and photoreceptors (PRs), and currently suffer from a lack of effective treatments. Highly specialized RPE and PR cells interact mutually in the functional retina, therefore primary HRD affecting one cell type leading to a secondary HRD in the other cells. Phagocytosis is one of the primary functions of the RPE and studies have discovered that mutations in the phagocytosis-associated gene Mer tyrosine kinase receptor (MERTK) lead to primary RPE dystrophy. Treatment strategies for this rare disease include the replacement of diseased RPE with healthy autologous RPE to prevent PR degeneration. The generation and directed differentiation of patient-derived human-induced pluripotent stem cells (hiPSCs) may provide a means to generate autologous therapeutically-relevant adult cells, including RPE and PR. However, the continued presence of the MERTK gene mutation in patient-derived hiPSCs represents a significant drawback. Recently, we reported the generation of a hiPSC model of MERTK-associated Retinitis Pigmentosa (RP) that recapitulates disease phenotype and the subsequent creation of gene-corrected RP-hiPSCs using Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR)/Cas9. In this study, we differentiated gene-corrected RP-hiPSCs into RPE and found that these cells had recovered both wild-type MERTK protein expression and the lost phagocytosis of fluorescently-labeled photoreceptor outer segments observed in uncorrected RP-hiPSC-RPE. These findings provide proof-of-principle for the utility of gene-corrected hiPSCs as an unlimited cell source for personalized cell therapy of rare vision disorders.

Preserved Para-arteriolar Retinal Pigment Epithelium Retinitis Pigmentosa

1992 ◽  
Vol 113 (2) ◽  
pp. 161-164 ◽  
Author(s):  
Alessandro Porta ◽  
Chiara Pierrottet ◽  
Monica Aschero ◽  
Nicola Orzalesi
Keyword(s):  
Retinal Pigment Epithelium ◽  
Retinitis Pigmentosa ◽  
Pigment Epithelium ◽  
Retinal Pigment

scholarly journals Novel non-sense mutation in RP2 (c.843_844insT/p.Arg282fs) is associated with a severe phenotype of retinitis pigmentosa without evidence of primary retinal pigment epithelium involvement

2019 ◽  
Vol 12 (5) ◽  
pp. e224451 ◽  
Author(s):  
Faye Horner ◽  
James Wawrzynski ◽  
Robert MacLaren
Keyword(s):  
Retinal Pigment Epithelium ◽  
Retinitis Pigmentosa ◽  
Pigment Epithelium ◽  
Retinal Pigment ◽  
Gene Replacement ◽  
Viral Gene ◽  
Retinal Layer ◽  
Viral Gene Therapy ◽  
Gene Therapy Vectors ◽  
Route Of Delivery

Retinitis pigmentosa (RP) relates to a heterogeneous group of rod-cone dystrophies of varying genetic aetiology. There is currently great interest in gene replacement therapy. Phenotyping is of particular importance because some RP genes are expressed ubiquitously and it is critically important to understand which retinal layer is primarily affected. RP2 is increasingly diagnosed in patients suffering from X-linked RP, which causes outer retinal degeneration. We present a case of a previously unreported null mutation in RP2 associated with severe RP. Loss of the retinal pigment epithelium (RPE) was noted in the central macula but not around the disc or peripherally. There was therefore no evidence of independent degeneration of the RPE. Hence despite expression in all retinal cells, RP2 deficiency does not appear to be pathogenic to the RPE. This observation may be helpful in considering the promoter and route of delivery of adeno-associated viral gene therapy vectors encoding RP2.

scholarly journals Retinal Pigment Epithelium Remodeling in Mouse Models of Retinitis Pigmentosa

2021 ◽  
Vol 22 (10) ◽  
pp. 5381
Author(s):  
Debora Napoli ◽  
Martina Biagioni ◽  
Federico Billeri ◽  
Beatrice Di Marco ◽  
Noemi Orsini ◽  
...  
Keyword(s):  
Retinal Pigment Epithelium ◽  
Retinitis Pigmentosa ◽  
Structural Integrity ◽  
Pigment Epithelium ◽  
Retinal Pigment ◽  
Barrier Dysfunction ◽  
Blood Retinal Barrier ◽  
Quantitative Image ◽  
Fluorescent Dextran

In retinitis pigmentosa (RP), one of many possible genetic mutations causes rod degeneration, followed by cone secondary death leading to blindness. Accumulating evidence indicates that rod death triggers multiple, non-cell-autonomous processes, which include oxidative stress and inflammation/immune responses, all contributing to cone demise. Inflammation relies on local microglia and recruitment of immune cells, reaching the retina through breakdowns of the inner blood retinal barrier (iBRB). Leakage in the inner retina vasculature suggests similarly altered outer BRB, formed by junctions between retinal pigment epithelium (RPE) cells, which are crucial for retinal homeostasis, immune response, and privilege. We investigated the RPE structural integrity in three models of RP (rd9, rd10, and Tvrm4 mice) by immunostaining for zonula occludens-1 (ZO-1), an essential regulatory component of tight junctions. Quantitative image analysis demonstrated discontinuities in ZO-1 profiles in all mutants, despite different degrees of photoreceptor loss. ZO-1 interruption zones corresponded to leakage of in vivo administered, fluorescent dextran through the choroid-RPE interface, demonstrating barrier dysfunction. Dexamethasone, administered to rd10 mice for rescuing cones, also rescued RPE structure. Thus, previously undetected, stereotyped abnormalities occur in the RPE of RP mice; pharmacological targeting of inflammation supports a feedback loop leading to simultaneous protection of cones and the RPE.

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