Concepedia

Retinal Dystrophy Genetics

Retinal Dystrophy Genetics is a scientific framework that systematically characterizes the hereditary mechanisms and genetic variations underlying pediatric retinal dystrophies, distinguishing it from broader ophthalmic genetics by its focused elucidation of gene mutations, inheritance patterns, and molecular pathways specific to developmental retinal disorders.

471

Publications

29K

Citations

2.7K

Authors

816

Institutions

Publications per year

2017–2026

146

Parents

Publications

471

Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65 -mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial

Stephen R. Russell, Jean Bennett, Jennifer Wellman et al. · The Lancet · 2017 · 1.9K citations

, , +14

Mutation of the receptor tyrosine kinase gene Mertk in the retinal dystrophic RCS rat

Patricia M. D'Cruz · Human Molecular Genetics · 2000 · 872 citations · Full text

, , +17

Photoreceptor degeneration in inherited retinal dystrophy delayed by basic fibroblast growth factor

Ella G. Faktorovich, Roy H. Steinberg, Douglas Yasumura et al. · Nature · 1990 · 717 citations

, , +16

Identification of the gene responsible for Best macular dystrophy

Konstantin Petrukhin, Markus J. Koisti, Benjamin Bakall et al. · Nature Genetics · 1998 · 686 citations

, , +12

Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa

Andreas Gal, Yun Li, Debra A. Thompson et al. · Nature Genetics · 2000 · 665 citations

, , +16

1–5 of 471

Authors

2.7K

  1. AR
    Andrew R. Webster

    University College London, United Kingdom

    32 publications · 1.6K citations

    24

    h-index

  2. AT
    Anthony T. Moore

    University College London, United Kingdom

    23 publications · 1.2K citations

    21

    h-index

  3. MM
    Michel Michaelides

    University College London, United Kingdom

    21 publications · 755 citations

    18

    h-index

  4. SK
    Susanne Kohl

    STZ eyetrial, Germany

    19 publications · 998 citations

    16

    h-index

  5. GA
    Gavin Arno

    University College London, United Kingdom

    19 publications · 904 citations

    16

    h-index

1–5 of 2.7K

Institutions

816

  1. University College London

    London, United Kingdom

    32 h-index

    381 publications

    22.1K citations

  2. Moorfields Eye Hospital

    London, United Kingdom

    29 h-index

    222 publications

    11.5K citations

  3. Moorfields Eye Hospital NHS Foundation Trust

    London, United Kingdom

    28 h-index

    157 publications

    12.7K citations

  4. Radboud University Nijmegen

    Nijmegen, The Netherlands

    24 h-index

    143 publications

    7.6K citations

  5. Radboud University Medical Center

    Nijmegen, The Netherlands

    23 h-index

    131 publications

    7K citations

  6. Inserm

    Paris, France

    19 h-index

    151 publications

    5.7K citations

  7. University of Michigan

    Ann Arbor, United States

    19 h-index

    74 publications

    8.9K citations

  8. Ghent University Hospital

    Ghent, Belgium

    18 h-index

    118 publications

    9.7K citations

1–8 of 816

Venues

  1. Investigative Ophthalmology & Visual Science

    IOVS · 41 publications · 1.9K citations

    27

    h-index

  2. PubMed

    Repository · 39 publications · 1.9K citations

    25

    h-index

  3. British Journal of Ophthalmology

    BJO · 25 publications · 1.2K citations

    22

    h-index

  4. Human Molecular Genetics

    19 publications · 2.2K citations

    17

    h-index

  5. Scientific Reports

    15 publications · 767 citations

    14

    h-index

1–5