Mutation in the RIEG1 gene in patients with iridogoniodysgenesis syndrome.

  title={Mutation in the RIEG1 gene in patients with iridogoniodysgenesis syndrome.},
  author={S. Kulak and K. Kozlowski and E. Semina and W. G. Pearce and M. Walter},
  journal={Human molecular genetics},
  volume={7 7},
  • S. Kulak, K. Kozlowski, +2 authors M. Walter
  • Published 1998
  • Biology, Medicine
  • Human molecular genetics
  • Axenfeld-Rieger syndrome (ARS) and iridogoniodysgenesis syndrome (IGDS) are clinically related autosomal dominant disorders which affect the anterior segment of the eye as well as non-ocular structures. ARS patients present with iris hypoplasia, a prominent Schwalbe line, adhesions between the iris stroma and the iridocorneal angle and increased intraocular pressure. IGDS is characterized by iris hypoplasia, goniodysgenesis and increased intraocular pressure. Each syndrome also presents with… CONTINUE READING
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