Showing 41 - 60 results of 69 for search '"retinitis pigmentosa"', query time: 0.06s Refine Results
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    Multimodal Imaging Characteristics of ADRP in a Family with p.Thr58Arg Substituted RHO Mutation by Misty Ruppert, John Pyun, K. V. Chalam, David Sierpina

    Published 2020-01-01
    “…Autosomal dominant retinitis pigmentosa (adRP) is a rare cause of progressive visual impairment in young patients and is frequently a result of RHO gene mutations. p.Thr58Arg rhodopsin mutation leads to misfolding of rhodopsin, subsequent accumulation in the endoplasmic reticulum, and leads to consecutive atrophy of photoreceptor cells through apoptosis. …”
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  7. 47

    State-of-the-art gene therapy for inherited retinal disorders by O.I. Orenburkina, A.E. Babushkin

    Published 2024-03-01
    “…., Leber congenital amaurosis 2 and retinitis pigmentosa 20. Studies (including domestic ones) have demonstrated a positive effect of this drug, particularly in children. …”
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  8. 48

    From bench to bedside: Developing CRISPR/Cas-based therapy for ocular diseases by Qing Zhao, Linxin Wei, Youxin Chen

    Published 2025-03-01
    “…Besides, therapeutic applications of CRISPR/Cas have been extensively explored in preclinical in vitro and in vivo studies, targeting various ocular conditions, such as retinitis pigmentosa, Leber congenital amaurosis, Usher syndrome, fundus neovascular diseases, glaucoma, and corneal diseases. …”
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  9. 49

    Retinal Pigment Epithelium Transplantation: Past, Present, and Future by Ayyad Zartasht Khan, Tor Paaske Utheim, Jon Roger Eidet

    Published 2022-11-01
    “…Damaged RPE is associated with diseases such as age-related macular degeneration, Stargardt's macular dystrophy, and retinitis pigmentosa. RPE cells can easily be visualized in vivo, sustainable in vitro, anddifferentiated from stem cells with a relatively straightforward protocol. …”
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  10. 50

    Cell Therapy for Retinal Dystrophies: From Cell Suspension Formulation to Complex Retinal Tissue Bioengineering by Karim Ben M’Barek, Christelle Monville

    Published 2019-01-01
    “…Retinal degeneration is an irreversible phenomenon caused by various disease conditions including age-related macular degeneration (AMD) and retinitis pigmentosa (RP). During the course of these diseases, photoreceptors (PRs) are susceptible to degeneration due to their malfunctions or to a primary dysfunction of the retinal pigment epithelium (RPE). …”
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  11. 51

    Non-Viral Delivery Systems to Transport Nucleic Acids for Inherited Retinal Disorders by Md Jobair Jony, Ameya Joshi, Alekha Dash, Surabhi Shukla

    Published 2025-01-01
    “…This review delves into introduction of common IRDs such as Leber congenital amaurosis, retinitis pigmentosa, Usher syndrome, macular dystrophies, and choroideremia and critically assesses current treatments including neuroprotective agents, cellular therapy, and gene therapy along with their limitations. …”
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  12. 52

    Management of Ocular Diseases Using Lutein and Zeaxanthin: What Have We Learned from Experimental Animal Studies? by Chunyan Xue, Richard Rosen, Adrienne Jordan, Dan-Ning Hu

    Published 2015-01-01
    “…The effects of lutein and zeaxanthin on the prevention and treatment of various eye diseases, including age-related macular degeneration, diabetic retinopathy and cataract, ischemic/hypoxia induced retinopathy, light damage of the retina, retinitis pigmentosa, retinal detachment, and uveitis, have been studied in different experimental animal models. …”
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  13. 53

    Targeting Inflammation in Emerging Therapies for Genetic Retinal Disease by Ishaq A. Viringipurampeer, Abu E. Bashar, Cheryl Y. Gregory-Evans, Orson L. Moritz, Kevin Gregory-Evans

    Published 2013-01-01
    “…Genetic retinal diseases such as age-related macular degeneration and monogenic diseases such as retinitis pigmentosa account for some of the commonest causes of blindness in the developed world. …”
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  14. 54

    A membrane-targeted photoswitch restores physiological ON/OFF responses to light in the degenerate retina by Gaia Ziraldo, Sara Cupini, Valentina Sesti, Emanuela Delfino, Guglielmo Lanzani, Chiara Bertarelli, Fabio Benfenati, Stefano Di Marco

    Published 2025-01-01
    “…Abstract The lack of effective therapies for visual restoration in Retinitis pigmentosa and macular degeneration has led to the development of new strategies, such as optogenetics and retinal prostheses. …”
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  15. 55

    Dysmorphic Facial Features and Other Clinical Characteristics in Two Patients with PEX1 Gene Mutations by Mehmet Gunduz, Ozlem Unal

    Published 2016-01-01
    “…Ophthalmologic examination findings were consistent with bilateral nystagmus and retinitis pigmentosa. Cranial MRI was normal. Dysmorphic facial features including broad nasal root, low set ears, downward slanting eyes, downward slanting eyebrows, and epichantal folds were common findings in two patients. …”
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  16. 56

    A Y178C rhodopsin mutation causes aggregation and comparatively severe retinal degeneration by Sreelakshmi Vasudevan, Paul S.–H. Park

    Published 2025-01-01
    “…Numerous mutations in rhodopsin promote receptor misfolding and aggregation, causing autosomal dominant retinitis pigmentosa, a progressive retinal degenerative disease. …”
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  17. 57

    An Update on the Genetics of Usher Syndrome by José M. Millán, Elena Aller, Teresa Jaijo, Fiona Blanco-Kelly, Ascensión Gimenez-Pardo, Carmen Ayuso

    Published 2011-01-01
    “…Usher syndrome (USH) is an autosomal recessive disease characterized by hearing loss, retinitis pigmentosa (RP), and, in some cases, vestibular dysfunction. …”
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  18. 58

    Investigating the Causes of Blindness and Vision Impairment in Children Younger Than 15 Years Old by Abbas Riazi, Fatemeh Riazi

    Published 2025-03-01
    “…Congenital retinal diseases include 42% of the causes of blindness and vision impairment in these children. Retinitis pigmentosa 9%, Leber congenital amaurosis (LCA) 8%, albinism <1%, refractive errors 9.5%, cortical visual impairment 13.6%, cataract and glaucoma each alone 7%, corneal opacity 1.7% and non-pathogenic causes, such as trauma <1% were diagnosed. …”
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  19. 59

    Overexpression of MiR-183/96/182 Triggers Retina-Like Fate in Human Bone Marrow-Derived Mesenchymal Stem Cells (hBMSCs) in Culture by Mohammad-Reza Mahmoudian-Sani, Fatemeh Forouzanfar, Samira Asgharzade, Nilufar Ghorbani

    Published 2019-01-01
    “…Retinal degeneration is considered as a condition ensued by different blinding disorders such as retinitis pigmentosa, age-related macular degeneration, and diabetic retinopathy, which can cause loss of photoreceptor cells and also lead to significant vision deficiencies. …”
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  20. 60

    CRISPR/Cas9, a universal tool for genomic engineering by A. V. Smirnov, A. M. Yunusova, V. A. Lukyanchikova, N. R. Battulin

    Published 2016-09-01
    “…For instance, the CRISPR/Cas9 was recently used to control HIV infection and to repair genetic abnormalities, such as Duchenne muscular dystrophy or retinitis pigmentosa, both in cell cultures and rodent models. …”
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