CYP1B1 Mutations are a Major Contributor to Juvenile-Onset Open Angle Glaucoma in Saudi Arabia

Ophthalmic Genetics

Volumn 36, Issue 2, 2015, Pages 184-187

  Abu Amero, Khaled K ^a,b,c   Morales, Jose ^a   Aljasim, Leyla A ^a   Edward, Deepak P ^a,d  

^a KING KHALED EYE SPECIALIST HOSPITAL   (Saudi Arabia)

^b KING SAUD UNIVERSITY   (Saudi Arabia)

^c UNIVERSITY OF FLORIDA COLLEGE OF MEDICINE   (United States)

^d JOHNS HOPKINS UNIVERSITY   (United States)

Author keywords

CYP1B1; Juvenile open angle glaucoma; LTBP2; Myocilin; Saudi arabia

Indexed keywords

AMINO ACID; CYTOCHROME P450 1B1; LATENT TRANSFORMING GROWTH FACTOR BETA BINDING PROTEIN; LATENT TRANSFORMING GROWTH FACTOR BETA BINDING PROTEIN 2; MYOCILIN; UNCLASSIFIED DRUG; CYTOSKELETON PROTEIN; EYE PROTEIN; GLYCOPROTEIN; LTBP2 PROTEIN, HUMAN; TRABECULAR MESHWORK-INDUCED GLUCOCORTICOID RESPONSE PROTEIN;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHILD; CILIARY BODY; CLINICAL ARTICLE; CLINICAL EXAMINATION; CLINICAL FEATURE; FAMILIAL DISEASE; FAMILY ASSESSMENT; FAMILY HISTORY; FEMALE; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; GLAUCOMA; HETEROZYGOTE; HOMOZYGOTE; HUMAN; INTRAOCULAR PRESSURE; JUVENILE ONSET OPEN ANGLE GLAUCOMA; MALE; MEDICAL HISTORY; MUTATION RATE; ONSET AGE; OPEN ANGLE GLAUCOMA; PHENOTYPIC VARIATION; POPULATION; PRIORITY JOURNAL; SAUDI ARABIA; SCHOOL CHILD; SCREENING TEST; VISUAL FIELD; YOUNG ADULT; ARAB; ENZYMOLOGY; GENETICS; MUTATION;

ADOLESCENT; ADULT; ARABS; CHILD; CYTOCHROME P-450 CYP1B1; CYTOSKELETAL PROTEINS; EYE PROTEINS; FEMALE; GLAUCOMA, OPEN-ANGLE; GLYCOPROTEINS; HUMANS; INTRAOCULAR PRESSURE; LATENT TGF-BETA BINDING PROTEINS; MALE; MUTATION; SAUDI ARABIA; YOUNG ADULT;

EID: 84931839271     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.3109/13816810.2013.841961     Document Type: Article

References (8)

1. Wiggs JL, Del Bono EA, Schuman JS, et al. Clinical features of five pedigrees genetically linked to the juvenile glaucoma locus on chromosome 1q21-q31. Ophthalmology 1995;102:1782-1789.
2. Turalba AV, Chen TC. Clinical and genetic characteristics of primary juvenile-onset open-angle glaucoma (JOAG). Semin Ophthalmol 2008;23:19-25.
3. Acharya M, Mookherjee S, Bhattacharjee A, et al. Primary role of CYP1B1 in Indian juvenile-onset POAG patients. Mol Vis 2006;12:399-404.
4. Khan AO, Al-Abdi L, Mohamed JY, et al. Familial juvenile glaucoma with underlying homozygous p.G61E CYP1B1 mutations. J Aapos 2011;15:198-199.
5. Abu-Amero KK, Osman EA, Mousa A, et al. Screening of CYP1B1 and LTBP2 genes in Saudi families with primary congenital glaucoma: genotype-phenotype correlation. Mol Vis 2011;17:2911-2919.
6. Su CC, Liu YF, Li SY, et al. Mutations in the CYP1B1 gene may contribute to juvenile-onset open-angle glaucoma. Eye (Lond) 2012;26:1369-1377.
7. Vincent AL, Billingsley G, Buys Y, et al. Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene. Am J Human Genet 2002;70:448-460.
8. Ali M, McKibbin M, Booth A, et al. Null mutations in LTBP2 cause primary congenital glaucoma. Am J Hum Genet 2009;84:664-671.