Showing 21 - 40 results of 69 for search '"retinitis pigmentosa"', query time: 0.06s 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. …”
    Get full text
    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. …”
    Get full text
    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. …”
    Get full text
    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. …”
    Get full text
    Article
  5. 25
  6. 26
  7. 27
  8. 28
  9. 29
  10. 30
  11. 31
  12. 32

    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. …”
    Get full text
    Article
  13. 33
  14. 34
  15. 35

    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). …”
    Get full text
    Article
  16. 36

    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. …”
    Get full text
    Article
  17. 37

    Generation of three human induced pluripotent stem cell lines from retinitis pigmentosa 25 patient and two carriers but asymptomatic daughters by Helena Isla-Magrané, Maddalen Zufiaurre-Seijo, Miguel Ángel Zapata, Josep García-Arumí, Anna Duarri

    Published 2025-02-01
    “…Retinitis Pigmentosa type 25 (RP25) is a form of inherited retinal dystrophy characterized by a progressive loss of rod photoreceptors, subsequent degeneration of cone photoreceptors, and eventually, the retinal pigment epithelium. …”
    Get full text
    Article
  18. 38
  19. 39

    Generation of the human iPSC line ESi132-A from a patient with retinitis pigmentosa caused by a mutation in the PRPF31 gene by Estefanía Caballano Infantes, Laurie Clauzon, Berta de la Cerda Haynes, Francisco Díaz-Corrales

    Published 2025-02-01
    “…Mutations in the PRPF31 gene are a well-known cause of autosomal dominant retinitis pigmentosa (RP), the most prevalent genetic form of blindness in adults, affecting 1 in 4,000 individuals globally. …”
    Get full text
    Article
  20. 40

    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. …”
    Get full text
    Article