A myocilin Gln368STOP homozygote does not exhibit a more severe glaucoma phenotype than heterozygous cases

American Journal of Ophthalmology

Volumn 141, Issue 2, 2006, Pages 402-403

  Hewitt, Alex W ^a,b   Bennett, Sonya L ^b   Dimasi, David P ^a   Craig, Jamie E ^a   Mackey, David A ^b  

^a FLINDERS UNIVERSITY   (Australia)

^b ROYAL VICTORIAN EYE AND EAR HOSPITAL   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

MYOCILIN;

ADULT; AGED; ANAMNESIS; ARTICLE; CASE REPORT; CLINICAL EXAMINATION; CLINICAL FEATURE; COMPUTER ASSISTED PERIMETRY; FEMALE; GENE MUTATION; GLAUCOMA; HAPLOTYPE; HETEROZYGOTE; HOMOZYGOTE; HUMAN; INTRAOCULAR HYPERTENSION; INTRAOCULAR PRESSURE; MALE; PHENOTYPE; PRIORITY JOURNAL; VISUAL ACUITY; VISUAL FIELD DEFECT;

AGED; CODON, NONSENSE; CODON, TERMINATOR; CYTOSKELETAL PROTEINS; DNA MUTATIONAL ANALYSIS; EYE PROTEINS; FEMALE; GLAUCOMA, OPEN-ANGLE; GLYCOPROTEINS; HETEROZYGOTE; HOMOZYGOTE; HUMANS; INTRAOCULAR PRESSURE; MALE; MIDDLE AGED; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA;

EID: 31944440306     PISSN: 00029394     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajo.2005.08.073     Document Type: Article

References (7)

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2. J.E. Craig, P.N. Baird, D.L. Healey Evidence for genetic heterogeneity within eight glaucoma families, with the GLC1A Gln368STOP mutation being an important phenotypic modifier Ophthalmology 108 2001 1607 1620
3. P.N. Baird, A.J. Richardson, J.E. Craig, E. Rochtchina, D.A. Mackey, P. Mitchell The Q368Stop myocilin mutation in a population-based cohort The Blue Mountains Eye Study Am J Ophthalmol 139 2005 1125 1126
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7. C.P. Pang, Y.F. Leung, B. Fan TIGR/MYOC gene sequence alterations in individuals with and without primary open-angle glaucoma Invest Ophthalmol Vis Sci 43 2002 3231 3235