A clinical and molecular genetics study of primary congenital glaucoma in South Korea

British Journal of Ophthalmology

Volumn 96, Issue 11, 2012, Pages 1372-1377

  Suh, Wool ^a   Kee, Changwon ^a  

^a Sungkyunkwan University   (South Korea)

Author keywords

[No Author keywords available]

Indexed keywords

ANTIGLAUCOMA AGENT; CYTOCHROME P450 1B1; MYOCILIN;

ADULT; ALLELE; ARTICLE; CLINICAL FEATURE; CLINICAL STUDY; CONTROLLED STUDY; CORNEA DISEASE; CYP1B1 GENE; DISEASE ASSOCIATION; DISEASE SEVERITY; EYE DISEASE; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC SCREENING; GENOTYPE; GLAUCOMA; GLAUCOMA SURGERY; GONIOTOMY; HUMAN; INTRAOCULAR PRESSURE; MAJOR CLINICAL STUDY; MALE; MOLECULAR GENETICS; MYOC GENE; PHENOTYPE; PRIMARY CONGENITAL GLAUCOMA; PRIORITY JOURNAL; SOUTH KOREA; TRABECULECTOMY; TREATMENT RESPONSE; VISUAL ACUITY;

ALLELES; ARYL HYDROCARBON HYDROXYLASES; CHILD, PRESCHOOL; CYTOSKELETAL PROTEINS; DNA; DNA MUTATIONAL ANALYSIS; EYE PROTEINS; FEMALE; GENETIC TESTING; GENOTYPE; GLAUCOMA; GLYCOPROTEINS; HUMANS; INCIDENCE; INFANT; INFANT, NEWBORN; MALE; MUTATION; PEDIGREE; REPUBLIC OF KOREA;

EID: 84868155379     PISSN: 00071161     EISSN: 14682079     Source Type: Journal    
DOI: 10.1136/bjophthalmol-2012-301517     Document Type: Article

References (23)

1. Shields M. Childhood glaucoma. In: Allingham RR, Damji KF, Freedman S, et al, eds. Shields' textbook of glaucoma. Baltimore: Lippincott Wiliams & Wilkins, 2005, 206-27.
2. Dannheim R, Haas H. Visual acuity and intraocular pressure after surgery in congenital glaucoma (author's transl). Klin Monbl Augenheilkd 1980;177:296-303.
3. Morgan KS, Black B, Ellis FD, et al. Treatment of congenital glaucoma. Am J Ophthalmol 1981;92:799-803.
4. Sarfarazi M, Stoilov I, Schenkman JB. Genetics and biochemistry of primary congenital glaucoma. Ophthalmol Clin North Am 2003;16:543-54, vi.
5. Ohtake Y, Tanino T, Suzuki Y, et al. Phenotype of cytochrome P4501B1 gene (CYP1B1) mutations in Japanese patients with primary congenital glaucoma. Br J Ophthalmol 2003;87:302-4.
6. Michels-Rautenstrauss KG, Mardin CY, Zenker M, et al. Primary congenital glaucoma: three case reports on novel mutations and combinations of mutations in the GLC3A (CYP1B1) gene. J Glaucoma 2001;10:354-7.
7. Stoilov IR, Costa VP, Vasconcellos JP, et al. Molecular genetics of primary congenital glaucoma in Brazil. Invest Ophthalmol Vis Sci 2002;43:1820-7.
8. Hollander DA, Sarfarazi M, Stoilov I, et al. Genotype and phenotype correlations in congenital glaucoma. Trans Am Ophthalmol Soc 2006;104:183-95.
9. Campos-Mollo E, Lopez-Garrido MP, Blanco-Marchite C, et al. CYP1B1 mutations in Spanish patients with primary congenital glaucoma: phenotypic and functional variability. Mol Vis 2009;15:417-31.
10. Alfadhli S, Behbehani A, Elshafey A, et al. Molecular and clinical evaluation of primary congenital glaucoma in Kuwait. Am J Ophthalmol 2006;141:512-16.
11. Panicker SG, Mandal AK, Reddy AB, et al. Correlations of genotype with phenotype in Indian patients with primary congenital glaucoma. Invest Ophthalmol Vis Sci 2004;45:1149-56.
12. Acharya M, Mookherjee S, Bhattacharjee A, et al. Primary role of CYP1B1 in Indian juvenile-onset POAG patients. Mol Vis 2006;12:399-404.
13. Chavarria-Soley G, Michels-Rautenstrauss K, Caliebe A, et al. Novel CYP1B1 and known PAX6 mutations in anterior segment dysgenesis (ASD). J Glaucoma 2006;15:499-504.
14. Vincent A, Billingsley G, Priston M, et al. Phenotypic heterogeneity of CYP1B1: mutations in a patient with Peters' anomaly. J Med Genet 2001;38:324-6.
15. Lopez-Garrido MP, Sanchez-Sanchez F, Lopez-Martinez F, et al. Heterozygous CYP1B1 gene mutations in Spanish patients with primary open-angle glaucoma. Mol Vis 2006;12:748-55.
16. Kaur K, Reddy AB, Mukhopadhyay A, et al. Myocilin gene implicated in primary congenital glaucoma. Clin Genet 2005;67:335-40.
17. Vincent AL, Billingsley G, Buys Y, et al. Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene. Am J Hum Genet 2002; 70:448-60.
18. Kim HJ, Suh W, Park SC, et al. Mutation spectrum of CYP1B1 and MYOC genes in Korean patients with primary congenital glaucoma. Mol Vis 2011; 17:2093-101.
19. Dean CB, Nielsen JD. Generalized linear mixed models: a review and some extensions. Lifetime Data Anal 2007;13:497-512.
20. Kakiuchi-Matsumoto T, Isashiki Y, Ohba N, et al. Cytochrome P450 1B1 gene mutations in Japanese patients with primary congenital glaucoma(1). Am J Ophthalmol 2001;131:345-50.
21. Weisschuh N, Wolf C, Wissinger B, et al. A clinical and molecular genetic study of German patients with primary congenital glaucoma. Am J Ophthalmol 2009;147:744-53.
22. Ohtake Y, Tanino T, Suzuki Y, et al. Phenotype of cytochrome P4501B1 gene (CYP1B1) mutations in Japanese patients with primary congenital glaucoma. Br J Ophthalmol 2003;87:302-4.
23. Jansson I, Stoilov I, Sarfarazi M, et al. Effect of two mutations of human CYP1B1, G61E and R469W, on stability and endogenous steroid substrate metabolism. Pharmacogenetics 2001;11:793-801.