Mutation-independent treatment of autosomal dominant Retinitis Pigmentosa (adRP) [PDF]
, 2010 Viral-mediated gene therapy holds great promise for the treatment of severe inherited retinal diseases, such as Retintitis Pigmentosa (RP), which is caused by mutations in genes preferentially expressed in photoreceptor cells. The availability of vectors
Mussolino, Claudio
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: Peropsin in retinitis pigmentosa [PDF]
, 2007 Many genes from retinoid metabolism cause retinitis pigmentosa. Peropsin, an opsin-like protein with unknown function, is specifically expressed in apical retinal pigment epithelium microvilli.
Hamel, Christian, P. +5 more
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Long-term safety of human retinal progenitor cell transplantation in retinitis pigmentosa patients
Stem Cell Research & Therapy, 2017 Background Retinitis pigmentosa is a common genetic disease that causes retinal degeneration and blindness for which there is currently no curable treatment available.
Yong Liu +8 more
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Towards identifying the ADRP gene in a large South African family with retinitis pigmentosa [PDF]
, 2000 Bibliography: leaves 162-190.The present study was initiated with the aim of elucidating the molecular genetic basis of the RP phenotype segregating in a large SA family of British origin.
Goliath, René
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The cellular fate of mutant rhodopsin: quality control, degradation and aggresome formation [PDF]
, 2002 Mutations in the photopigment rhodopsin are the major cause of autosomal dominant retinitis pigmentosa. The majority of mutations in rhodopsin lead to misfolding of the protein.
Munro, PMG +3 more
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, 1964 Retinitis pigmentosa is a chronic, progressive, hereditary disease of unknown aetiology. The symptoms of the disease follow a set pattern of progression and usually terminate with blindness. It starts the insidious path to blindness at various ages.
Hewett, Joe D.
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Macular Hole of the Left Eye in a 41-year-old Patient with Retinitis pigmentosa. A Case Report
OkulistykaRetinitis pigmentosa is characterized by degeneration of the photoreceptors or retinal pigment epithelium and causes progressive vision loss. The disease can lead to night blindness, reduced field of vision and finally to complete loss of vision.
Bożena Kmak +3 more
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Anatomical and functional correlates of cystic macular edema in retinitis pigmentosa.
PLoS ONE, 2022 Cystoid macular edema (CME) is a major cause of central visual deterioration in retinitis pigmentosa. The exact reason for CME and its prognostic significance in this patient population is unknown.
Adam Ruff +2 more
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Modeling retinitis pigmentosa through patient-derived retinal organoids
STAR Protocols, 2021 Summary: Human-induced pluripotent stem cells (hiPSCs) can be differentiated into well-structured retinal organoids. In this protocol, we successfully established 3D retinae from patient-derived hiPSCs and built the retinitis pigmentosa model in vitro ...
Yan-Ping Li, Wen-Li Deng, Zi-Bing Jin
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Advances in gene therapy technologies to treat retinitis pigmentosa [PDF]
, 2013 Hilda Petrs-Silva, Rafael LindenInstitute of Biophysics, Federal University of Rio de Janeiro, Rio de Janeiro, BrazilAbstract: Retinitis pigmentosa (RP) is a class of diseases that leads to progressive degeneration of the retina.
Linden R, Petrs-Silva H
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