Literature DB >> 15492748

Posterior embryotoxon may not be a forme fruste of Axenfeld-Rieger's Syndrome.

K T Sim1, Bhavani Karri, Stephen B Kaye.   

Abstract

Axenfeld-Rieger Syndrome is a disorder of morphogenesis which is autosomal dominantly inherited. One of the main ocular features associated with Axenfeld-Rieger is posterior embryotoxon, which is a prominent anteriorly displaced Schwalbe's line. This can be found in up to 15% of normal eyes, without any clinical significance or may represent a forme fruste of an anterior segment dysgenesis. Many large case series studies of Axenfeld-Rieger had used the presence of posterior embryotoxon with iris strands extending from the peripheral iris to Schwalbe's line, as inclusion criterion for this condition. We report a case of Axenfeld-Rieger syndrome without posterior embryotoxon and the abnormalities of the angle, but with other features to support the diagnosis of Axenfeld-Rieger Syndrome.

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Year:  2004        PMID: 15492748     DOI: 10.1016/j.jaapos.2004.06.012

Source DB:  PubMed          Journal:  J AAPOS        ISSN: 1091-8531            Impact factor:   1.220


  3 in total

Review 1.  Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations.

Authors:  Zeynep Tümer; Daniella Bach-Holm
Journal:  Eur J Hum Genet       Date:  2009-06-10       Impact factor: 4.246

2.  Missed case of Axenfeld-Rieger syndrome: a case report.

Authors:  L Dhir; K Frimpong-Ansah; Nabil E Habib
Journal:  Cases J       Date:  2008-11-06

3.  Anterior segment dysgenesis in a child with factor VII deficiency.

Authors:  Francis Beby; Sandrine Meunier; Pierre Cochat; Olivier Roche; Florent Aptel; Carole Burillon; Philippe Denis
Journal:  Clin Ophthalmol       Date:  2007-09
  3 in total

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