Abstract:
PURPOSE:To report two memorable clinical comorbid cases of Williams-Beuren syndrome (WBS) associated with keratoconus (KC). WBS is known to be an abnormal systemic development caused by a microdeletion of contiguous genes in chromosome 7q11.23, which includes the elastin gene. KC is currently suspected to have a genetic origin but the responsible gene has not been clearly identified. METHODS:KC and WBS is described for two cases. Risk factors for KC were investigated by interviewing parents, and WBS was confirmed by fluorescence in-situ hybridization (FISH). Histological analysis with Orcein (coloring specific to elastin) on the receiver corneal button of patient 1 was carried out. RESULTS:Because of the rarity of both pathologies and the absence of other risk factors for developing keratoconus, we considered a possible genetic link. The association had never been reported in the literature. The first histological investigation could not confirm the presence of abnormal elastin in the cornea, but another gene could be responsible. CONCLUSION:This report highlights the first cases of this association. Further histological and cytogenetic investigation on the deletion should be interesting in order to argue a possible physiopathological or genomic link.
journal_name
Ophthalmic Genetjournal_title
Ophthalmic geneticsauthors
Pinsard L,Touboul D,Vu Y,Lacombe D,Leger F,Colin Jdoi
10.3109/13816810.2010.523038subject
Has Abstractpub_date
2010-12-01 00:00:00pages
252-6issue
4eissn
1381-6810issn
1744-5094journal_volume
31pub_type
杂志文章abstract:PURPOSE:Genetic factors are shown to have a role in the development of primary open-angle glaucoma (POAG). The aim of this study was to determine the effects of genetic polymorphisms of Rho-kinase (ROCK) genes on the risk of POAG in a Turkish population. METHODS:Genomic DNA was extracted from leukocytes of the periphe...
journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816810.2014.895016
更新日期:2016-01-01 00:00:00
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journal_title:Ophthalmic genetics
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doi:10.3109/13816810.2015.1136336
更新日期:2017-01-01 00:00:00
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doi:10.3109/13816810.2012.736590
更新日期:2013-03-01 00:00:00
abstract::A novel rhodopsin missense mutation (M216R) was found in a Danish patient with autosomal dominant retinitis pigmentosa. Clinical examination of the proband disclosed a phenotype of intermediate severity. In view of the predicted amino acid substitution in the 5th transmembrane domain of rhodopsin, the clinical picture...
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更新日期:1996-12-01 00:00:00
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doi:10.1080/13816810.2016.1253104
更新日期:2017-09-01 00:00:00
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pub_type: 杂志文章,评审
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更新日期:2013-12-01 00:00:00
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doi:10.1080/13816810.2019.1634740
更新日期:2019-08-01 00:00:00
abstract::Isolated congenital lens coloboma is a sectoral indentation of the crystalline lens due to zonular weakness or absence. The purpose of this report is to describe the association of lens coloboma with an adjacent cyst in the ciliary body and to suggest that ciliary body cysts may be an under-recognized cause of congeni...
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doi:10.1080/13816810701531260
更新日期:2007-12-01 00:00:00
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journal_title:Ophthalmic genetics
pub_type: 杂志文章,评审
doi:10.3109/13816810.2011.565397
更新日期:2011-09-01 00:00:00
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doi:10.1080/13816810490902684
更新日期:2004-12-01 00:00:00
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更新日期:2020-06-01 00:00:00
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pub_type: 杂志文章
doi:10.1076/opge.22.2.107.2226
更新日期:2001-06-01 00:00:00
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journal_title:Ophthalmic genetics
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doi:10.1076/opge.23.2.121.2211
更新日期:2002-06-01 00:00:00
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journal_title:Ophthalmic genetics
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doi:10.1080/13816810.2018.1479430
更新日期:2018-08-01 00:00:00
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journal_title:Ophthalmic genetics
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doi:10.3109/13816819509059970
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journal_title:Ophthalmic genetics
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doi:10.1076/opge.19.3.149.2186
更新日期:1998-09-01 00:00:00
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journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.1080/13816810802216472
更新日期:2008-09-01 00:00:00
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更新日期:2001-09-01 00:00:00
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更新日期:2020-10-01 00:00:00
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pub_type: 杂志文章
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更新日期:2008-06-01 00:00:00
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更新日期:2019-06-01 00:00:00
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更新日期:2018-04-01 00:00:00
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doi:10.1080/13816810802697473
更新日期:2009-06-01 00:00:00
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journal_title:Ophthalmic genetics
pub_type: 杂志文章
doi:10.3109/13816810.2010.512354
更新日期:2010-12-01 00:00:00
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更新日期:2020-12-04 00:00:00