Showing 21 - 40 results of 56 for search '"retinitis pigmentosa"', query time: 0.08s Refine Results
  1. 21

    A Brief Review on the Pathological Role of Decreased Blood Flow Affected in Retinitis Pigmentosa by Yi Jing Yang, Jun Peng, Deng Ying, Qing Hua Peng

    Published 2018-01-01
    “…Retinitis pigmentosa (RP) represents a clinically and genetically heterogeneous disease characterized by progressive photoreceptor loss. …”
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    Article
  2. 22

    Systematic Review of Randomized Clinical Trials on Safety and Efficacy of Pharmacological and Nonpharmacological Treatments for Retinitis Pigmentosa by Marta Sacchetti, Flavio Mantelli, Daniela Merlo, Alessandro Lambiase

    Published 2015-01-01
    “…Several treatments have been proposed to slow down progression of Retinitis pigmentosa (RP), a hereditary retinal degenerative condition leading to severe visual impairment. …”
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    Article
  3. 23

    Correlation between Transient Pupillary Light Reflex and Retinal Function Impairment in Patients with Retinitis Pigmentosa by Yan He, Huanyu Tang, Gang Wang, Bangqi Ren, Yi Wang, Yong Liu

    Published 2018-01-01
    “…To investigate the relationship between transient pupillary light reflex (PLR) and visual function in patients with retinitis pigmentosa (RP). Methods. A retrospective study was performed with 137 eyes of 73 patients with RP. …”
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    Article
  4. 24

    Artificially intelligent detection of retinal pigment sign using P3S-Net for retinitis pigmentosa analysis by Syed Muhammad Ali Imran, Abida Hussain, Nema Salem, Muhammad Arsalan

    Published 2025-03-01
    “…An ocular condition known as retinal pigmentosa (RP) first results in night blindness and persistent degradation of the retinal pigment. …”
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    Article
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    Exome Sequencing Identified a Recessive RDH12 Mutation in a Family with Severe Early-Onset Retinitis Pigmentosa by Bo Gong, Bo Wei, Lulin Huang, Jilong Hao, Xiulan Li, Yin Yang, Yu Zhou, Fang Hao, Zhihua Cui, Dingding Zhang, Le Wang, Houbin Zhang

    Published 2015-01-01
    “…Retinitis pigmentosa (RP) is the most important hereditary retinal disease caused by progressive degeneration of the photoreceptor cells. …”
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    Article
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    Retinitis Pigmentosa and Bilateral Idiopathic Demyelinating Optic Neuritis in a 6-Year-Old Boy with OFD1 Gene Mutation by Xun Wang, Cong Zheng, Wen Liu, Hui Yang

    Published 2017-01-01
    “…His condition was diagnosed as retinitis pigmentosa (RP) with idiopathic demyelinating optic neuritis (IDON). …”
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    Article
  12. 32

    RHO Mutations (p.W126L and p.A346P) in Two Japanese Families with Autosomal Dominant Retinitis Pigmentosa by Satoshi Katagiri, Takaaki Hayashi, Masakazu Akahori, Takeshi Itabashi, Jo Nishino, Kazutoshi Yoshitake, Masaaki Furuno, Kazuho Ikeo, Tetsuji Okada, Hiroshi Tsuneoka, Takeshi Iwata

    Published 2014-01-01
    “…To investigate genetic and clinical features of patients with rhodopsin (RHO) mutations in two Japanese families with autosomal dominant retinitis pigmentosa (adRP). Methods. Whole-exome sequence analysis was performed in ten adRP families. …”
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    Article
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    A Novel Pathogenic Splicing Mutation of OFD1 is Responsible for a Boy with Joubert Syndrome Exhibiting Orofaciodigital Spectrum Anomalies, Polydactyly and Retinitis Pigmentosa by Chen L, Zhao MF, Deng HW, Liao M, Fan LL, Zhong QB, Wang J, Li K, Wu ZH, Yin JY

    Published 2025-02-01
    “…Here, we identified a child who presented with Joubert syndrome exhibiting orofaciodigital spectrum anomalies, polydactyly, and retinitis pigmentosa. Whole exome sequencing and Sanger sequencing revealed a splicing mutation (NM_003611.2, c.2387+1G>A) in the OFD1 gene of the patient and his mother. mRNA sequencing further confirmed this mutation. …”
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    Article
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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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    Article
  19. 39

    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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  20. 40

    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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    Article