Abstract:
PURPOSE:To screen a population with primary open-angle glaucoma for mutations in the gene that encodes the trabecular meshwork inducible glucocorticoid response protein (TIGR), also known as myocilin (MYOC). METHODS:Ophthalmologic information was collected for study subjects with primary open-angle glaucoma and their relatives. Mutation screening of 74 primary open-angle glaucoma probands was conducted by sequencing TIGR/MYOC coding sequence and splice sites. RESULTS:In 23 families we detected 13 nonsynonymous sequence changes, nine of which appear to be mutations likely to cause or contribute to primary open-angle glaucoma. Two mutations, Arg272Gly and Ile499Ser, and one nonsynonymous sequence variant, Asn57Asp, are novel. We found mutations in nine of 25 juvenile glaucoma probands (36%) and two of 49 adult-onset glaucoma probands (4%). Age classification of families rather than individual probands revealed mutations in three of nine families with strictly juvenile primary open-angle glaucoma (33%), and no mutations in 39 families with strictly adult-onset primary open-angle glaucoma (0%). In families with mixed-onset primary open-angle glaucoma containing both juvenile primary open-angle glaucoma and adult-onset primary open-angle glaucoma cases, we found mutations in eight of 26 families (31%). CONCLUSIONS:Our data suggest that Gly252Arg, Arg272Gly, Glu323Lys, Gln368STOP, Pro370Leu, Thr377Met, Val426Phe, Ile477Asn, and Ile499Ser are likely to play roles that cause or contribute to the etiology of autosomal dominant primary open-angle glaucoma. Our finding of more TIGR/MYOC mutations in families with mixed-onset primary open-angle glaucoma than in the families with strictly adult-onset primary open-angle glaucoma implies that the presence of relatives with juvenile primary open-angle glaucoma in a family could be used as a basis for identifying a subset of the population with adult-onset primary open-angle glaucoma with higher prevalence of TIGR/MYOC mutations. To address this issue, and to refine estimations of mutation prevalence in these age-defined subpopulations, prospective study of a larger population ascertained entirely through adult-onset primary open-angle glaucoma probands will be needed.
journal_name
Am J Ophthalmoljournal_title
American journal of ophthalmologyauthors
Shimizu S,Lichter PR,Johnson AT,Zhou Z,Higashi M,Gottfredsdottir M,Othman M,Moroi SE,Rozsa FW,Schertzer RM,Clarke MS,Schwartz AL,Downs CA,Vollrath D,Richards JEdoi
10.1016/s0002-9394(00)00536-5subject
Has Abstractpub_date
2000-08-01 00:00:00pages
165-77issue
2eissn
0002-9394issn
1879-1891pii
S0002939400005365journal_volume
130pub_type
杂志文章abstract:PURPOSE:To describe the pre-exudative stage of exudative perifoveal vascular anomalous complex (ePVAC), referred to as nonexudative PVAC (nePVAC). DESIGN:Retrospective noncomparative case series. METHODS:Patients diagnosed with nePVAC were identified at 4 retina referral centers worldwide. Multimodal retinal imaging,...
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pub_type: 杂志文章
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journal_title:American journal of ophthalmology
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abstract:PURPOSE:To investigate the prevalence and associations of visual impairment and spectacle use in university students in central China. DESIGN:Cross-sectional study. METHODS:This study included students aged 16-26 years in China. Study subjects from 2 universities underwent distance visual acuity (VA) assessment in bo...
journal_title:American journal of ophthalmology
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journal_title:American journal of ophthalmology
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journal_title:American journal of ophthalmology
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journal_title:American journal of ophthalmology
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journal_title:American journal of ophthalmology
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更新日期:2013-12-01 00:00:00
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journal_title:American journal of ophthalmology
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更新日期:2005-04-01 00:00:00
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journal_title:American journal of ophthalmology
pub_type: 杂志文章
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更新日期:1988-12-15 00:00:00
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pub_type: 杂志文章,多中心研究
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更新日期:2003-02-01 00:00:00
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