Rieger's anomaly and other ocular abnormalities in association with osteogenesis imperfecta and a COL1A1 mutation

Ophthalmic Genet. 2005 Sep;26(3):135-8. doi: 10.1080/13816810500228993.


A patient with osteogenesis imperfecta (OI) and some features of Ehlers-Danlos syndrome had Rieger's anomaly and other associated ocular abnormalities. He carried a COL1A1 mutation (c.3313delA) that has only rarely been seen in OI. The association of ocular anterior chamber abnormalities with OI has not been reported previously, while OI with Ehlers-Danlos syndrome features has only been described in some kindreds. The patient had serious complications as a result of his ocular anomalies. We speculate that the course of his disease and, perhaps, its co-existence with OI could be exacerbated by his collagen type-I defect, although no causality can be established by this report of a single case.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adult
  • Atrophy
  • Collagen Type I / genetics*
  • Collagen Type I, alpha 1 Chain
  • Corneal Edema / genetics
  • DNA Mutational Analysis
  • Eye Abnormalities / genetics*
  • Frameshift Mutation*
  • Humans
  • Iris / abnormalities*
  • Iris / pathology
  • Male
  • Osteogenesis Imperfecta / genetics*
  • Pupil Disorders / genetics


  • Collagen Type I
  • Collagen Type I, alpha 1 Chain