Axenfeld - Riegers Syndrome and Ice Syndromes
Dr. A. Patrick,
Department of Ophthalmology, University of the Witwatersrand, September 1999
 [for Professionals mainly]
Embryology ... Three successive waves of neural crest cell ingrowth associated with differentiation of the anterior ... Development
of the angle (simplified) ... By the fourth month of gestation the primordium of the trabecular meshwork is recognizable as a
triangular mass of cells lying between the corneal endothelium and the stroma ... Axenfeld - Riegers Syndrome ... Presentation ...
abnormal iris/pupil ... glaucoma ... photophobia, lacrimation ... decreased visual acuity; extraocular abnormalities ... Cornea:
... characteristic abnormality is a prominent, anteriorly displaced Schwalbe's line ... variation in corneal size has been reported
(megalo/micro cornea) ... Anterior chamber angle: A prominent Schwalbe's line ... Extra ocular features ... Dental abnormalities
- reduction in crown size (microdontia) - decreased number of evenly spaced teeth (hypodontia) - focal absence of teeth (oligodontia)
... Facial abnormalities - maxillary hypoplasia, with flattening of the midface and receding upper lip and prominent lower lip
- hypertelorism and/or telecanthus ... Others - anomalies in the region of the pituitary gland - primary empty sella and GH deficiency
described ... Differential Diagnosis ... Aniridia: especially if some rudimentary iris is present, with associated glaucoma ...
Peter's anomaly: is characterized by a congenital central corneal leukoma ... Congenital iris hypoplasia: lacks the angle defects ...
Congenital ectropian uveae ... may occur as an isolated finding or in association with neurofibromatosis, facial hemiatrophy or Prader Willi
syndrome (obesity, hypotonia, ... retardation and predilection for diabetes mellitus):
- glaucoma is present in a high percentage of patients and in addition may ... Iridocorneal Endothelial Syndromes (Ice Syndrome)
... group of disorders has a characteristic abnormality of the corneal endothelium as the common denominator ... Progressive iris atrophy ...
Chandler's syndrome ... Cogan-Reese syndrome ...
Rieger Syndrome, Type 1
Victor A. McKusick, Johns Hopkins University, July 18, 2007
[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 ...
Rieger Syndrome, Type 1 (In detail)
Victor A. McKusick, Johns Hopkins University, July 18, 2007
[for Professionals mainly]
Gene Map Locus: 4q25-q26 ...
Hypodontia (partial anodontia) with malformation of the anterior chamber of the eye was recognized as a dominantly inherited disorder by
Rieger (1935, 1941). The ocular features are microcornea with opacity, hypoplasia of the iris, and anterior synechiae ... Busch et al.
(1960) found myotonic dystrophy as a consistently associated feature. Others have not found myotonia ...
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Last Updated: 2007/10/26
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