Literature DB >> 19587595

Myopia genetics: a review of current research and emerging trends.

Dana M Hornbeak1, Terri L Young.   

Abstract

PURPOSE OF REVIEW: Myopia, or nearsightedness, is the most common human eye disorder in the world and is a significant global public health concern. Along with cataract, macular degeneration, infectious disease, and vitamin A deficiency, myopia is one of the most important causes of visual impairment worldwide. Severe or high-grade myopia is a leading cause of blindness because of its associated ocular comorbidities of retinal detachment, macular choroidal degeneration, premature cataract, and glaucoma. Ample epidemiologic and molecular genetic studies support heritability of the nonsyndromic forms of this condition. RECENT
FINDINGS: Multiple myopia genetic loci have been identified, establishing this entity as a common complex disorder and underscoring the suitability for gene inquiry studies. Animal model research, primarily using form-deprivation techniques, implicates multiple altered regulation of biological substances in the ocular wall layers, which provides important information for prioritizing human candidate gene studies. Recent epidemiologic work supports a greater role for outdoor activity in relieving myopia progression rather than the previous touted young-age near-work activity model.
SUMMARY: The identification of myopia susceptibility genes will not only provide insight into the molecular basis of this significant eye disorder, but will also identify pathways involved in eye growth and development. This effort may lead to effective therapies to treat or potentially prevent this common eye condition.

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Year:  2009        PMID: 19587595      PMCID: PMC3736551          DOI: 10.1097/ICU.0b013e32832f8040

Source DB:  PubMed          Journal:  Curr Opin Ophthalmol        ISSN: 1040-8738            Impact factor:   3.761


  61 in total

1.  Linkage replication of the MYP12 locus in common myopia.

Authors:  Christine Y Chen; Jim Stankovich; Katrina J Scurrah; Pam Garoufalis; Mohamed Dirani; Kelly K Pertile; Andrea J Richardson; Paul N Baird
Journal:  Invest Ophthalmol Vis Sci       Date:  2007-10       Impact factor: 4.799

2.  Refinement of the MYP3 locus on human chromosome 12 in a German family with Mendelian autosomal dominant high-grade myopia by SNP array mapping.

Authors:  Gudrun Nürnberg; Felix K Jacobi; Martina Broghammer; Christian Becker; Nikolaus Blin; Peter Nürnberg; Ulrich Stephani; Carsten M Pusch
Journal:  Int J Mol Med       Date:  2008-04       Impact factor: 4.101

3.  Assessment of TGIF as a candidate gene for myopia.

Authors:  Kelly K Pertile; Maria Schäche; F M Amirul Islam; Christine Y Chen; Mohamed Dirani; Paul Mitchell; Paul N Baird
Journal:  Invest Ophthalmol Vis Sci       Date:  2008-01       Impact factor: 4.799

4.  Stickler and branchio-oto-renal syndromes in a patient with mutations in EYA1 and COL2A1 genes.

Authors:  L Olavarrieta; C Morales-Angulo; I del Castillo; F Moreno; M A Moreno-Pelayo
Journal:  Clin Genet       Date:  2007-12-29       Impact factor: 4.438

5.  The COL1A1 gene and high myopia susceptibility in Japanese.

Authors:  Yumiko Inamori; Masao Ota; Hidetoshi Inoko; Eiichi Okada; Ritsuko Nishizaki; Tomoko Shiota; Jeewon Mok; Akira Oka; Shigeaki Ohno; Nobuhisa Mizuki
Journal:  Hum Genet       Date:  2007-06-08       Impact factor: 4.132

6.  [A genome-wide screening for pathological myopia suggests a novel locus on chromosome 15q12 - 13].

Authors:  Zhi-qiang Yu; Yue-bin Li; Chuan-xin Huang; Ren-yuan Chu; Dan-ning Hu; Zong-hou Shen; Wei Huang
Journal:  Zhonghua Yan Ke Za Zhi       Date:  2007-03

7.  Significant ocular findings are a feature of heritable bone dysplasias resulting from defects in type II collagen.

Authors:  Sarah P Meredith; Allan J Richards; Philip Bearcroft; Arabella V Pouson; Martin P Snead
Journal:  Br J Ophthalmol       Date:  2007-03-08       Impact factor: 4.638

8.  Linkage and association of myocilin (MYOC) polymorphisms with high myopia in a Chinese population.

Authors:  Wing Chun Tang; Shea Ping Yip; Ka Kin Lo; Po Wah Ng; Pik Shan Choi; Sau Yin Lee; Maurice K H Yap
Journal:  Mol Vis       Date:  2007-04-04       Impact factor: 2.367

9.  The Roles of PAX6 and SOX2 in Myopia: lessons from the 1958 British Birth Cohort.

Authors:  Claire L Simpson; Pirro Hysi; Shomi S Bhattacharya; Chris J Hammond; Andrew Webster; Catherine S Peckham; Pak C Sham; Jugnoo S Rahi
Journal:  Invest Ophthalmol Vis Sci       Date:  2007-10       Impact factor: 4.799

10.  Common MFRP sequence variants are not associated with moderate to high hyperopia, isolated microphthalmia, and high myopia.

Authors:  Ravikanth Metlapally; Yi-Ju Li; Khanh-Nhat Tran-Viet; Anuradha Bulusu; Tristan R White; Jaclyn Ellis; Daniel Kao; Terri L Young
Journal:  Mol Vis       Date:  2008-03-04       Impact factor: 2.367

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  56 in total

1.  Post-translationally abnormal collagens of prolyl 3-hydroxylase-2 null mice offer a pathobiological mechanism for the high myopia linked to human LEPREL1 mutations.

Authors:  David M Hudson; Kyu Sang Joeng; Rachel Werther; Abbhirami Rajagopal; MaryAnn Weis; Brendan H Lee; David R Eyre
Journal:  J Biol Chem       Date:  2015-02-02       Impact factor: 5.157

2.  High myopia caused by a mutation in LEPREL1, encoding prolyl 3-hydroxylase 2.

Authors:  Shikma Mordechai; Libe Gradstein; Annika Pasanen; Rivka Ofir; Khalil El Amour; Jaime Levy; Nadav Belfair; Tova Lifshitz; Sara Joshua; Ginat Narkis; Khalil Elbedour; Johanna Myllyharju; Ohad S Birk
Journal:  Am J Hum Genet       Date:  2011-09-01       Impact factor: 11.025

Review 3.  The role of microRNAs in myopia.

Authors:  Bo Jiang; Yanan Huo; Yangshun Gu; Jianyong Wang
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  2016-11-11       Impact factor: 3.117

Review 4.  Which lamp will be optimum to eye? Incandescent, fluorescent or LED etc.

Authors:  Liang Chen; Xiao-Wei Zhang
Journal:  Int J Ophthalmol       Date:  2014-02-18       Impact factor: 1.779

Review 5.  Gene profiling in experimental models of eye growth: clues to myopia pathogenesis.

Authors:  Richard A Stone; Tejvir S Khurana
Journal:  Vision Res       Date:  2010-04-02       Impact factor: 1.886

6.  Variations in opsin coding sequences cause x-linked cone dysfunction syndrome with myopia and dichromacy.

Authors:  Michelle McClements; Wayne I L Davies; Michel Michaelides; Terri Young; Maureen Neitz; Robert E MacLaren; Anthony T Moore; David M Hunt
Journal:  Invest Ophthalmol Vis Sci       Date:  2013-02-15       Impact factor: 4.799

7.  Choriocapillaris Degeneration in Geographic Atrophy.

Authors:  Elliott H Sohn; Miles J Flamme-Wiese; S Scott Whitmore; Grefachew Workalemahu; Alexander G Marneros; Erin A Boese; Young H Kwon; Kai Wang; Michael D Abramoff; Budd A Tucker; Edwin M Stone; Robert F Mullins
Journal:  Am J Pathol       Date:  2019-04-30       Impact factor: 4.307

8.  Association mapping of the high-grade myopia MYP3 locus reveals novel candidates UHRF1BP1L, PTPRR, and PPFIA2.

Authors:  Felicia Hawthorne; Sheng Feng; Ravikanth Metlapally; Yi-Ju Li; Khanh-Nhat Tran-Viet; Jeremy A Guggenheim; Francois Malecaze; Patrick Calvas; Thomas Rosenberg; David A Mackey; Cristina Venturini; Pirro G Hysi; Christopher J Hammond; Terri L Young
Journal:  Invest Ophthalmol Vis Sci       Date:  2013-03-21       Impact factor: 4.799

Review 9.  Pharmacology of myopia and potential role for intrinsic retinal circadian rhythms.

Authors:  Richard A Stone; Machelle T Pardue; P Michael Iuvone; Tejvir S Khurana
Journal:  Exp Eye Res       Date:  2013-01-08       Impact factor: 3.467

10.  Juvenile myopia progression, risk factors and interventions.

Authors:  Elliott H Myrowitz
Journal:  Saudi J Ophthalmol       Date:  2011-03-15
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