Concepedia

Congenital Glaucoma

Congenital Glaucoma is a rare developmental disorder of the eye characterized by elevated intraocular pressure due to abnormal anterior chamber angle development, manifesting either at birth or within the first years of life.

1K

Publications

45.3K

Citations

3.4K

Authors

987

Institutions

Publications per year

2017–2026

183

Parents

Children

Publications

1K

Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2p21

I. Stoilov · Human Molecular Genetics · 1997 · 648 citations

, , +17

Clinical Features Associated with Mutations in the Chromosome 1 Open-Angle Glaucoma Gene (<i>GLC1A</i>)

Wallace L.M. Alward, John H. Fingert, Michael Coote et al. · New England Journal of Medicine · 1998 · 468 citations · Full text

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ORGANIC-ACIDURIA, DECREASED RENAL AMMONIA PRODUCTION, HYDROPHTHALMOS, AND MENTAL RETARDATION&lt;subtitle&gt;A Clinical Entity&lt;/subtitle&gt;

Charles U. Lowe · Archives of Pediatrics and Adolescent Medicine · 1952 · 394 citations

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Sequence Analysis and Homology Modeling Suggest That Primary Congenital Glaucoma on 2p21 Results from Mutations Disrupting Either the Hinge Region or the Conserved Core Structures of Cytochrome P4501B1

Ivaylo Stoilov, Nurten Akarsu, Ihuoma Alozie et al. · The American Journal of Human Genetics · 1998 · 392 citations · Full text

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Null Mutations in LTBP2 Cause Primary Congenital Glaucoma

Manir Ali, Martin McKibbin, Adam Booth et al. · The American Journal of Human Genetics · 2009 · 325 citations · Full text

, , +12

1–5 of 1K

Authors

3.4K

  1. AK
    Anil K. Mandal

    L V Prasad Eye Institute, India

    29 publications · 1.4K citations

    22

    h-index

  2. DS
    David S. Walton

    Massachusetts Eye and Ear Infirmary, United States

    16 publications · 773 citations

    14

    h-index

  3. DA
    David A. Mackey

    Centre for Eye Research Australia, Australia

    15 publications · 1.9K citations

    14

    h-index

  4. JE
    Jamie E. Craig

    Flinders University, Australia

    13 publications · 1.3K citations

    13

    h-index

  5. JE
    Julio Escribano

    University of Castilla-La Mancha, Spain

    15 publications · 499 citations

    12

    h-index

1–5 of 3.4K

Institutions

987

  1. L V Prasad Eye Institute

    Hyderabad, India

    26 h-index

    134 publications

    6.7K citations

  2. King Khaled Eye Specialist Hospital

    Riyadh, Saudi Arabia

    20 h-index

    60 publications

    4.5K citations

  3. University College London

    London, United Kingdom

    20 h-index

    82 publications

    5.1K citations

  4. Massachusetts Eye and Ear Infirmary

    Boston, United States

    18 h-index

    37 publications

    3.1K citations

  5. Moorfields Eye Hospital

    London, United Kingdom

    17 h-index

    51 publications

    3.1K citations

  6. University of Wisconsin–Madison

    Madison, United States

    17 h-index

    71 publications

    4.1K citations

  7. Harvard University

    Cambridge, United States

    16 h-index

    32 publications

    2K citations

  8. All India Institute of Medical Sciences

    New Delhi, India

    15 h-index

    103 publications

    2.9K citations

1–8 of 987

Venues

  1. PubMed

    Repository · 148 publications · 5.3K citations

    39

    h-index

  2. American Journal of Ophthalmology

    89 publications · 4.1K citations

    38

    h-index

  3. Ophthalmology

    37 publications · 3.2K citations

    32

    h-index

  4. Archives of Ophthalmology

    50 publications · 2.8K citations

    30

    h-index

  5. British Journal of Ophthalmology

    BJO · 55 publications · 3K citations

    29

    h-index

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