Axenfeld-Rieger syndrome: a theory of mechanism and distinctions from the iridocorneal endothelial syndrome
Twenty-four patients with the diagnosis of Axenfeld's anomaly or Rieger's anomaly or syndrome were the subjects of a clinical study, which included specular microscopy of the corneal endothelium in 16 cases and fluorescein angiography of the iris in 5. Histopathologic material was obtained from ten eyes of eight of these patients (one enucleated eye and nine trabeculectomy specimens) and was studied by light and electron microscopy. The overlapping of ocular and nonocular defects in these patients prevented subclassification according to traditional criteria.

Rieger Syndrome, Type 1
[for Professionals mainly]
Clinical Synopsis ... Eyes: - Iris dysplasia - Microcornea - Glaucoma ... GI ... Anal stenosis ... Facies: - Maxillary hypoplasia - Mild prognathism ... Teeth: - Microdontia - Hypodontia - Cone - shaped teeth ... Ear: - Abnormal ear ... Abdomen: - Umbilical hernia ... Myotonic dystrophy found in one kindred ... Inheritance: - Autosomal dominant ...

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Last Updated: 2023/02/20

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