Childhood Glaucoma as an Ophthalmic Manifestation of Seckel Syndrome

被引：8

作者：

Aktas, Zeynep ^{[1
]}

Yuksel, Nilay ^{[1
]}

Kula, Serdar ^{[2
]}

Akman, Ahmet ^{[3
]}

Hasanreisoglu, Berati ^{[1
]}

机构：

[1] Gazi Univ, Dept Ophthalmol, Sch Med, Ankara, Turkey

[2] Gazi Univ, Dept Pediat Cardiol, Sch Med, Ankara, Turkey

[3] Baskent Univ, Dept Ophthalmol, Sch Med, TR-06490 Ankara, Turkey

来源：

JOURNAL OF GLAUCOMA | 2013年 / 22卷 / 04期

关键词：

childhood glaucoma; Seckel syndrome; trabeculectomy; NERVOUS-SYSTEM ANOMALIES; OCULAR MANIFESTATIONS; CEP152; FAMILY;

D O I：

10.1097/IJG.0b013e318237cadf

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

Purpose: The purpose of the study was to report a patient with Seckel syndrome associated with high intraocular pressures despite intensive antiglaucoma treatment. Methods: Case report. Results: High intraocular pressure readings in both eyes measured with the Goldman applanation tonometer, bilateral pigmentary retinopathy and total cupping of optic discs were found. The patient underwent bilateral trabeculectomy surgery as he had medically uncontrolled glaucoma. Conclusions: Childhood glaucoma may be associated with Seckel syndrome.

引用

页码：E3 / E4

页数：2

共 15 条

[1] Novel CENPJ mutation causes Seckel syndrome [J].

Al-Dosari, Mohammed S. ;

Shaheen, Ranad ;

Colak, Dilek ;

Alkuraya, Fowzan S. .

JOURNAL OF MEDICAL GENETICS, 2010, 47 (06) :411-414

[2]

Dimitrov B, 2004, GENET COUNSEL, V15, P395

[3] Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling [J].

Griffith, Elen ;

Walker, Sarah ;

Martin, Carol-Anne ;

Vagnarelli, Paola ;

Stiff, Tom ;

Vernay, Bertrand ;

Al Sanna, Nouriya ;

Saggar, Anand ;

Hamel, Ben ;

Earnshaw, William C. ;

Jeggo, Penny A. ;

Jackson, Andrew P. ;

O'Driscoll, Mark .

NATURE GENETICS, 2008, 40 (02) :232-236

[4] Ocular manifestations of Seckel syndrome [J].

Guirgis, MF ;

Lam, BL ;

Howard, CW .

AMERICAN JOURNAL OF OPHTHALMOLOGY, 2001, 132 (04) :596-597

[5] BIRD-HEADED DWARFS (SECKELS SYNDROME) - A FAMILIAL PATTERN OF DEVELOPMENTAL DENTAL SKELETAL GENITAL AND CENTRAL NERVOUS SYSTEM ANOMALIES [J].

HARPER, RG ;

ORTI, E ;

BAKER, RK .

JOURNAL OF PEDIATRICS, 1967, 70 (05) :799-+

[6] CEP152 is a genome maintenance protein disrupted in Seckel syndrome [J].

Kalay, Ersan ;

Yigit, Goekhan ;

Aslan, Yakup ;

Brown, Karen E. ;

Pohl, Esther ;

Bicknell, Louise S. ;

Kayserili, Hulya ;

Li, Yun ;

Tuysuz, Beyhan ;

Nuernberg, Gudrun ;

Kiess, Wieland ;

Koegl, Manfred ;

Baessmann, Ingelore ;

Buruk, Kurtulus ;

Toraman, Bayram ;

Kayipmaz, Saadettin ;

Kul, Sibel ;

Ikbal, Mevlit ;

Turner, Daniel J. ;

Taylor, Martin S. ;

Aerts, Jan ;

Scott, Carol ;

Milstein, Karen ;

Dollfus, Helene ;

Wieczorek, Dagmar ;

Brunner, Han G. ;

Hurles, Matthew ;

Jackson, Andrew P. ;

Rauch, Anita ;

Nuernberg, Peter ;

Karaguzel, Ahmet ;

Wollnik, Bernd .

NATURE GENETICS, 2011, 43 (01) :23-26

[7] SECKEL SYNDROME IN A YEMENI FAMILY IN SAUDI-ARABIA [J].

KRISHNA, AG ;

SCRIMGEOUR, EM ;

ZAWAWI, TH .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1994, 51 (03) :224-227

[8] Step to CEP152: uncovering a new mutation implicated in Seckel syndrome [J].

Ladha, S. .

CLINICAL GENETICS, 2011, 79 (05) :428-+

[9] STUDIES OF MICRO-CEPHALIC PRIMORDIAL DWARFISM .1. APPROACH TO A DELINEATION OF THE SECKEL SYNDROME [J].

MAJEWSKI, F ;

GOECKE, T .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1982, 12 (01) :7-21

[10] A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome [J].

O'Driscoll, M ;

Ruiz-Perez, VL ;

Woods, CG ;

Jeggo, PA ;

Goodship, JA .

NATURE GENETICS, 2003, 33 (04) :497-501

← 1 2 →