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Tytuł:
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COL4A1 mutations in two infants with congenital cataracts and porencephaly: an ophthalmologic perspective.
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Autorzy:
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Nau S; Department of Ophthalmology, University of Colorado School of Medicine, Aurora, Colorado.
McCourt EA; Department of Ophthalmology, University of Colorado School of Medicine, Aurora, Colorado.
Maloney JA; Department of Radiology, Children's Hospital Colorado, University of Colorado School of Medicine, Aurora, Colorado.
Van Hove JL; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado.
Saenz M; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado.
Jung JL; Department of Ophthalmology, University of Colorado School of Medicine, Aurora, Colorado. Electronic address: .
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Źródło:
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Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus [J AAPOS] 2019 Aug; Vol. 23 (4), pp. 246-248. Date of Electronic Publication: 2019 May 22.
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Typ publikacji:
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Case Reports; Journal Article
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Język:
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English
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Imprint Name(s):
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Publication: [New York] : Elsevier Inc.
Original Publication: St. Louis, MO : Mosby-Year Book, Inc., c1997-
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MeSH Terms:
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Abnormalities, Multiple*
Mutation*
Cataract/*genetics
Collagen Type IV/*genetics
DNA/*genetics
Porencephaly/*genetics
Brain/diagnostic imaging ; Cataract/congenital ; Cataract/diagnosis ; Collagen Type IV/metabolism ; DNA Mutational Analysis ; Female ; Humans ; Infant ; Magnetic Resonance Imaging/methods ; Male ; Pedigree ; Phenotype ; Porencephaly/diagnosis
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Substance Nomenclature:
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0 (COL4A1 protein, human)
0 (Collagen Type IV)
9007-49-2 (DNA)
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Entry Date(s):
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Date Created: 20190526 Date Completed: 20201008 Latest Revision: 20201008
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Update Code:
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20240104
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DOI:
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10.1016/j.jaapos.2019.04.003
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PMID:
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31128271
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COL4A1 mutations present with a spectrum of clinical phenotypes often involving the cerebrovascular and ophthalmic systems. We report 2 cases of COL4A1 mutations that presented with congenital cataracts and porencephaly. Both patients had posterior cortical cataracts and radiographically defined bilateral posterior lenticonus. Considering the long-term clinical implications of these mutations, posterior cortical cataracts, bilateral posterior lenticonus, and porencephaly should raise clinical suspicion for COL4A1 mutations.
(Copyright © 2019 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.)
Comment in: J AAPOS. 2019 Dec;23(6):362. (PMID: 31525464)
Comment in: J AAPOS. 2019 Dec;23(6):362. (PMID: 31580895)
