Please use this identifier to cite or link to this item: http://hdl.handle.net/10397/34270
PIRA download icon_1.1View/Download Full Text
DC FieldValueLanguage
dc.contributorSchool of Optometry-
dc.creatorYip, SP-
dc.creatorLi, CC-
dc.creatorYiu, WC-
dc.creatorHung, WH-
dc.creatorLam, WW-
dc.creatorLai, MC-
dc.creatorNg, PW-
dc.creatorFung, WY-
dc.creatorChu, PH-
dc.creatorJiang, B-
dc.creatorChan, HH-
dc.creatorYap, MK-
dc.date.accessioned2014-12-19T07:07:54Z-
dc.date.available2014-12-19T07:07:54Z-
dc.identifier.issn0275-5408-
dc.identifier.urihttp://hdl.handle.net/10397/34270-
dc.language.isoenen_US
dc.publisherWiley-Blackwellen_US
dc.rightsOphthalmic & Physiological Optics © 2013 The College of Optometristsen_US
dc.rightsThis is the accepted version of the following article: Yip, SP, Li, CC, Yiu, WC, Hung, WH, Lam, WW, Lai, MC, Ng, PW, Fung, WY, Chu, PHW, Jiang, B, Chan, HHL & Yap, MKH. A novel missense mutation in the NYX gene associated with high myopia. Ophthalmic Physiol Opt 2013, 33: 346–353, which has been published in final form at https://doi.org/10.1111/opo.12036. This article may be used for non-commercial purposes in accordance with the Wiley Self-Archiving Policy [http://www.wileyauthors.com/self-archiving].en_US
dc.subjectCongenital stationary night blindnessen_US
dc.subjectHigh myopiaen_US
dc.subjectMissense mutationen_US
dc.subjectNyctalopinen_US
dc.titleA novel missense mutation in the NYX gene associated with high myopiaen_US
dc.typeJournal/Magazine Articleen_US
dc.description.otherinformationTitle on author's file: A novel mutation in the NYX gene associated with high myopia, but not congenital stationary night blindnessen_US
dc.identifier.spage346-
dc.identifier.epage353-
dc.identifier.volume33-
dc.identifier.issue3-
dc.identifier.doi10.1111/opo.12036-
dcterms.abstractPurpose: Myopia is a complex eye disorder. The X-linked form of complete congenital stationary night blindness (CSNB1A) is usually associated with moderate to high myopia, and is caused by mutations in the NYX gene. We explored if NYX mutations could be associated with high myopia, but not CSNB1A. Methods: The coding regions of the NYX gene were sequenced for 204 Chinese males with high myopia (-8.00 dioptres or worse for both eyes). The frequencies of any sequence variations identified were determined in 200 Chinese males without myopia. Electro-oculography, electroretinography and standard cone function tests were performed on a male high myope carrying a mutation. Results: A missense mutation (c.529_530GC>AT or p.Ala177Met) was identified in one male subject with high myopia, but not in 200 male emmetropes. Neither was this variant found in any of the 529 male and 567 female subjects of various ethnic backgrounds whose genome sequences are documented in the 1000 Genomes Project database. The mutation was predicted to affect the protein function. From ocular electrophysiological tests, the proband was found to have normal rod function, but mildly abnormal cone function and inner retina function. He did not seem to suffer from CSNB1A. Conclusions: One novel missense NYX mutation was identified in an adult male presented with high myopia, but without the major electrophysiological features normally associated with CSNB1A. NYX gene mutations may be considered as one of the rare genetic risk factors for high myopia without key features of CSNB1A.-
dcterms.accessRightsopen access-
dcterms.bibliographicCitationOphthalmic and physiological optics, May 2013, v. 33, no. 3, p. 346-353-
dcterms.isPartOfOphthalmic and physiological optics-
dcterms.issued2013-05-
dc.identifier.scopus2-s2.0-84877806858-
dc.identifier.pmid23406521-
dc.identifier.eissn1475-1313-
dc.identifier.rosgroupidr65347-
dc.description.ros2012-2013 > Academic research: refereed > Publication in refereed journal-
dc.description.oaAccepted Manuscript-
dc.identifier.FolderNumbera0764-n06, a0780-n01-
dc.identifier.SubFormID1610, 1625-
dc.description.fundingSourceOthers-
dc.description.fundingTextG-U583, J-BB7P-
dc.description.pubStatusPublished-
Appears in Collections:Journal/Magazine Article
Files in This Item:
File Description SizeFormat 
a0780-n01_1625.pdfPre-Published version1.14 MBAdobe PDFView/Open
Open Access Information
Status open access
File Version Final Accepted Manuscript
Access
View full-text via PolyU eLinks SFX Query
Show simple item record

Page views

103
Last Week
1
Last month
Citations as of Mar 24, 2024

Downloads

25
Citations as of Mar 24, 2024

SCOPUSTM   
Citations

25
Last Week
0
Last month
1
Citations as of Mar 28, 2024

WEB OF SCIENCETM
Citations

21
Last Week
0
Last month
1
Citations as of Mar 28, 2024

Google ScholarTM

Check

Altmetric


Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.