Mutations of the CYP1B1 gene in congenital anterior staphylomas

被引：1

作者：

Al Judaibi, Ramzi ^{[1
]}

Abu-Amero, Khaled K. ^{[2
,3
]}

Morales, Jose ^{[1
]}

Al Shahwan, Sami ^{[1
]}

Edward, Deepak P. ^{[1
,4
]}

机构：

[1] King Khalid Eye Specialist Hosp, POB 7191, Riyadh 11462, Saudi Arabia

[2] King Saud Univ, Coll Med, Dept Ophthalmol, Riyadh, Saudi Arabia

[3] Univ Florida, Coll Med, Dept Ophthalmol, Jacksonville, FL USA

[4] Johns Hopkins Univ, Sch Med, Wilmer Eye Inst, Baltimore, MD USA

来源：

CLINICAL OPHTHALMOLOGY | 2014年 / 8卷

关键词：

mutation analysis; congenital glaucoma; consanguinity; congenital aphakia;

D O I：

10.2147/OPTH.S53200

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

Purpose: Here, we present two patients with congenital anterior staphyloma, with mutations in the CYP1B1 gene. Methods: We reviewed the medical records, including the genetic analysis. Results: Two unrelated patients presented with congenital anterior staphylomas. Both patients showed mutations in the CYP1B1 gene. The first patient, the product of a consanguineous marriage, showed a homozygous misssense mutation g.3987G. A (p.G61E). The second patient had compound heterozygous misssense mutations [g. 4160 G>T (p.A119S) and g. 8131 C>G (p.L432V)]. Conclusion: CYP1B1 gene mutation may be associated with congenital anterior staphylomas.

引用

页码：445 / 448

页数：4

共 19 条

[1]

Abu-Amero KK, 2011, MOL VIS, V17, P2911

[2] Phenotype of autosomal recessive congenital microphthalmia mapping to chromosome 14q32 [J].

Bessant, DAR ;

Anwar, K ;

Khaliq, S ;

Hameed, A ;

Ismail, M ;

Payne, AM ;

Mehdi, SQ ;

Bhattacharya, SS .

BRITISH JOURNAL OF OPHTHALMOLOGY, 1999, 83 (08) :919-922

[3] Intensive intracorneal keloid formation in a case of Peters plus syndrome and in Peters anomaly with maximum manifestation [J].

Eberwein, P. ;

Reinhard, T. ;

Agostini, H. ;

Poloschek, C. M. ;

Guthoff, R. ;

Auw-Haedrich, C. .

OPHTHALMOLOGE, 2010, 107 (02) :178-181

[4]

Edward Deepak, 2004, Ophthalmic Genet, V25, P257, DOI 10.1080/13816810490902648

[5] Molecular Characterization of Newborn Glaucoma Including a Distinct Aniridic Phenotype [J].

Khan, Arif O. ;

Aldahmesh, Mohammed A. ;

Al-Abdi, Lama ;

Mohamed, Jawahir Y. ;

Hashem, Mais ;

Al-Ghamdi, Ismael ;

Alkuraya, Fowzan S. .

OPHTHALMIC GENETICS, 2011, 32 (03) :138-142

[6] Familial juvenile glaucoma with underlying homozygous p.G61E CYP1B1 mutations [J].

Khan, Arif O. ;

Al-Abdi, Lama ;

Mohamed, Jawahir Y. ;

Aldahmesh, Mohammed A. ;

Alkuraya, Fowzan S. .

JOURNAL OF AAPOS, 2011, 15 (02) :198-199

[7]

Lopez-Garrido MP, 2006, MOL VIS, V12, P748

[8]

Lunardelli P., 2009, J PEDIAT OPHTHALMOL, V54, P393, DOI [10.3928/01913913-20090616-09, DOI 10.3928/01913913-20090616-09]

[9]

Miller Marijean M, 2003, Ophthalmic Genet, V24, P59, DOI 10.1076/opge.24.1.59.13891

[10] CONGENITAL CORNEAL STAPHYLOMA [J].

MULLANEY, PB ;

RISCO, JM ;

HEINZ, GW .

ARCHIVES OF OPHTHALMOLOGY, 1995, 113 (09) :1206-1207

← 1 2 →