Morphologie, Familienanamnese und Diagnosezeitpunkt bei 26 Patienten mit Axenfeld-Rieger-Syndrom und Glaukom oder okulärer Hypertension

Dressler, Paul; Gramer, E.

doi:10.1007/s00347-006-1335-6

Cited by 8 publications

(12 citation statements)

References 23 publications

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“…Virtually, all previously published studies report bilateral disease between 70 and 80% in congenital glaucoma patients. [1459] Congenital glaucoma in this study is, however, observed in 92.3% of the patients. The frequency of unilateral disease in secondary congenital glaucoma was higher than in primary congenital glaucoma, probably owing to the more frequent observation of unilaterality in phakomatoses, and Peters anomaly.…”

Section: Discussioncontrasting

confidence: 57%

Demographic features of subjects with congenital glaucoma

Tamçelik

Atalay

Bölükbaşı

et al. 2014

Indian J Ophthalmol

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Context:Congenital glaucoma is a potentially blinding ocular disease of the childhood. Identification of the possible associated risk factors and may be helpful for prevention or early detection of this public health problem.Aims:To demonstrate the demographic features of congenital glaucoma subjects.Setting and Design:The charts of congenital glaucoma patients referred to Tamcelik Glaucoma Center were retrospectively reviewed through the dates of 2000 and 2013.Materials and Methods:Analyzed data included diagnosis, age at first presentation, symptoms at first presentation, laterality of the disease, sex, presence of consanguinity, family history of congenital glaucoma, maturity of the fetus at delivery, and maternal age at conception.Statistical Analysis Used:Statistical Package for Social Sciences (SPSS) version 19.0 by IBM (SPSS Inc, Chicago, Illinois, USA) was used to compare the mean of continuous variables with Student's t-test and analysis of variance (ANOVA) and χ2 test was used to test differences in proportions of categorical variables.Results:The data of 600 eyes of 311 patients were analyzed. The distribution of primary and secondary congenital glaucoma among the patients were 63.3% (n = 197) and 36.7% (n = 114), respectively. Of the 311 patients, 57.2% (n = 178) were male and 42.8% (n = 133) were female. The overall frequency of bilateral disease was 92.3% (n = 287). Overall rate of consanguinity and positive family history was 45.3% (n = 141) and 21.2% (n = 66), respectively.Conclusions:Bilateral disease in this study was more common than previously reported studies. Positive family history was more frequent in primary congenital glaucoma although not statistically significant.

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Section: Discussioncontrasting

confidence: 57%

Demographic features of subjects with congenital glaucoma

Tamçelik

Atalay

Bölükbaşı

et al. 2014

Indian J Ophthalmol

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“…4 The severity of glaucoma does not correlate with the amount of abnormal tissue found in the angle but does correlate with the level of iris insertion into the angle. 4,5 Topical medications are recommended for the initial control of glaucoma; however, surgical interventions in the majority of cases are usually inevitable as disease progresses. Although goniotomy, trabeculectomy, and trabeculotomy are all effective candidates, however, trabeculectomy and antimetabolite treatment are usually preferred by most specialists.…”

Section: Discussionmentioning

confidence: 99%

Axenfeld-Rieger Syndrome in Monozygotic Twins

Ma¹,

Zhong²,

Zhao³

et al. 2011

Journal of Glaucoma

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Two teenaged monozygotic twin sisters with Axenfeld-Rieger syndrome (ARS) were referred to our center for uncontrolled glaucoma from the local hospital in December 2006. At presentation, typical components of ARS could be found in both patients, including iris anomaly, maxillary hypoplasia, hypodontia, and umbilical skin fold. Both sisters received trabeculectomy in both the eyes later in our center. Intraocular pressure was well controlled in both the eyes in both patients 1 year after the surgeries. No mutations were found by direct sequencing of PITX2 and FOXC1 genes, in the twin sisters. As far as we know, no earlier report has described monozygotic twins with ARS in the international literature.

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“…FoxC1 (XFD11, MF-1) is mutated in the autosomal dominant disease Axenfeld-Rieger syndrome (Panicker et al, 2002), which is characterized by ocular defects (Dressler and Gramer, 2006), cardiac disease (Tsai and Grajewski, 1994;Cunningham et al, 1998), and cranio-facial abnormalities (Jena and Kharbanda, 2005). Consistent with this, mouse FoxC1 loss of function leads to eye (Libby et al, 2003) and heart defects (Swiderski et al, 1999) as well as lymphatic (Seo et al, 2006) and germ cell migration abnormalities (Mattiske et al, 2006), while depletion of zebrafish FoxC1 inhibits somitogenesis ).…”

Section: Introductionmentioning

confidence: 99%

The role of FoxC1 in early Xenopus development

Birsoy

Kofron

et al. 2007

Developmental Dynamics

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FoxC1 is an important transcription factor in vertebrate development since its mutation in humans results in Axenfeld-Rieger syndrome. In the mouse, disturbance of its function causes congenital hydrocephalus and abnormalities in the development of various mesodermal derivatives. In this report, we provide one mechanistic basis for the requirement for FoxC1 in vertebrate development. We find that, in Xenopus laevis embryos, FoxC1 expression is regulated by the maternal T-box transcription factor VegT, via the nodal sub-family of TGF␤ signaling transducers. We show that at the late neurula to early tailbud stage, FoxC1 depletion causes the down-regulation of adhesion molecules, EP and E cadherin, as well as members of the Ephrin/EphR signaling families in the mesoderm germ layer resulting in the loss of adhesion and apoptosis of mesodermal cells. Developmental Dynamics 236:2731-2741, 2007.

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Morphologie, Familienanamnese und Diagnosezeitpunkt bei 26 Patienten mit Axenfeld-Rieger-Syndrom und Glaukom oder okulärer Hypertension

Cited by 8 publications

References 23 publications

Demographic features of subjects with congenital glaucoma

Demographic features of subjects with congenital glaucoma

Axenfeld-Rieger Syndrome in Monozygotic Twins

The role of FoxC1 in early Xenopus development

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