Journal ArticleDOI
Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma.
Gudmar Thorleifsson,Kristinn P. Magnusson,Patrick Sulem,G. Bragi Walters,Daniel F. Gudbjartsson,Hreinn Stefansson,Thorlakur Jonsson,Adalbjorg Jonasdottir,Aslaug Jonasdottir,Gerdur Stefansdottir,Gisli Masson,Gudmundur A. Hardarson,H. Petursson,Arsaell Arnarsson,Mehdi Motallebipour,Ola Wallerman,Claes Wadelius,Jeffrey R. Gulcher,Unnur Thorsteinsdottir,Augustine Kong,Fridbert Jonasson,Kari Stefansson +21 more
TLDR
Two nonsynonymous SNPs in exon 1 of the gene LOXL1 explain the association with glaucoma, and the data suggest that they confer risk of XFG mainly through exfoliation syndrome (XFS).Abstract:
Glaucoma is a leading cause of irreversible blindness A genome-wide search yielded multiple single-nucleotide polymorphisms (SNPs) in the 15q241 region associated with glaucoma Further investigation revealed that the association is confined to exfoliation glaucoma (XFG) Two nonsynonymous SNPs in exon 1 of the gene LOXL1 explain the association, and the data suggest that they confer risk of XFG mainly through exfoliation syndrome (XFS) About 25% of the general population is homozygous for the highest-risk haplotype, and their risk of suffering from XFG is more than 100 times that of individuals carrying only low-risk haplotypes The population-attributable risk is more than 99% The product of LOXL1 catalyzes the formation of elastin fibers found to be a major component of the lesions in XFGread more
Citations
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Ab interno trabeculectomy: Outcomes in exfoliation versus primary open-angle glaucoma
TL;DR: Ab interno trabeculectomy using this new incisional procedure safely lowered intraocular pressure to the mid teens, with an overall greater reduction in exfoliation glaucoma and improved success when combined with cataract surgery.
Journal ArticleDOI
Pseudoexfoliation and the cataract surgeon: preoperative, intraoperative, and postoperative issues related to intraocular pressure, cataract, and intraocular lenses.
TL;DR: This review provides a comprehensive assessment of intraocular pressure (IOP), phacoemulsification techniques, and intraocular lenses (IOLs) in pseudoexfoliation (PXF) eyes having cataract surgery with recommendations for the use of adjunctive pupil and zonule support devices.
Journal ArticleDOI
Single-Cell Analysis of Human Retina Identifies Evolutionarily Conserved and Species-Specific Mechanisms Controlling Development
Yufeng Lu,Fion Shiau,Wenyang Yi,Suying Lu,Qian Wu,Joel Pearson,Alyssa Kallman,Suijuan Zhong,Thanh Hoang,Zhentao Zuo,Fangqi Zhao,Mei Zhang,Mei Zhang,Nicole Tsai,Yan Zhuo,Sheng He,Jun Zhang,Genevieve Stein-O’Brien,Thomas D. Sherman,Xin Duan,Elana J. Fertig,Loyal A. Goff,Loyal A. Goff,Donald J. Zack,James T. Handa,Tian Xue,Tian Xue,Rod Bremner,Seth Blackshaw,Xiaoqun Wang,Brian S. Clark +30 more
TL;DR: This work identified evolutionarily conserved patterns of gene expression during retinal progenitor maturation and specification of all seven major retinal cell types and identified an unexpected role for ATOH7 expression in regulation of photoreceptor specification during late retinogenesis.
Journal ArticleDOI
Proinflammatory Cytokines Are Involved in the Initiation of the Abnormal Matrix Process in Pseudoexfoliation Syndrome/Glaucoma
Matthias Zenkel,Piotr Lewczuk,Anselm Jünemann,Friedrich E. Kruse,Gottfried O. H. Naumann,Ursula Schlötzer-Schrehardt +5 more
TL;DR: Findings support a role for a stress-induced, spatially, and temporally restricted subclinical inflammation in the onset of the fibrotic matrix process characteristic of PEX syndrome/glaucoma.
Journal ArticleDOI
Lysyl oxidases in mammalian development and certain pathological conditions.
TL;DR: Modification of the extracellular matrix by lysyl oxidases has been shown to be a critical contributor to the development of various organs and certain pathological conditions.
References
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Journal ArticleDOI
Statistical Aspects of the Analysis of Data From Retrospective Studies of Disease
Nathan Mantel,William Haenszel +1 more
TL;DR: In this paper, the role and limitations of retrospective investigations of factors possibly associated with the occurrence of a disease are discussed and their relationship to forward-type studies emphasized, and examples of situations in which misleading associations could arise through the use of inappropriate control groups are presented.
Journal ArticleDOI
Global data on visual impairment in the year 2002
Serge Resnikoff,Donatella Pascolini,Daniel Etya'ale,Ivo Kocur,Ramachandra Pararajasegaram,Gopal P. Pokharel,Silvio P Mariotti +6 more
TL;DR: Estimates from data on low vision and blindness as defined in the International statistical classification of diseases, injuries and causes of death, 10th revision show cataract remains the leading cause of visual impairment in all regions of the world, except in the most developed countries.
Journal ArticleDOI
Genomic control for association studies.
Bernie Devlin,Kathryn Roeder +1 more
TL;DR: The performance of the genomic control method is quite good for plausible effects of liability genes, which bodes well for future genetic analyses of complex disorders.
Journal ArticleDOI
The definition and classification of glaucoma in prevalence surveys
TL;DR: This review describes a scheme for diagnosis of glaucoma in population based prevalence surveys that makes provision for diagnosing glauca in eyes with severe visual loss where formal field testing is impractical, and for blind eyes in which the optic disc cannot be seen because of media opacities.
Journal ArticleDOI
Identification of a Gene That Causes Primary Open Angle Glaucoma
Edwin M. Stone,John H. Fingert,Wallace L.M. Alward,Thai Nguyen,Jon R. Polansky,Sara L.F. Sunden,Darryl Y. Nishimura,Abbot F. Clark,Arne M. Nystuen,Brian E. Nichols,David A. Mackey,Robert Ritch,Jeffrey W. Kalenak,E. Randy Craven,Val C. Sheffield +14 more
TL;DR: A gene encoding a trabecular meshwork protein (TIGR) mapped to the narrowest disease interval by STS content and radiation hybrid mapping and will aid in early diagnosis of glaucoma.