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Keywords:

  • sclerae;
  • blue;
  • collagen linkage;
  • genetic heterogeneity;
  • osteogenesis imperfecta

Abstract

Scleral hue is an important sign which distinguishes 2 broad groupings of patients, those with and those without blue sclerae with non-lethal osteogenesis imperfecta (OI). Individuals with OI type I have distinctly blue sclerae which remain intensely blue throughout life. In OI type III and OI type IV the sclerae may also be blue at birth and during infancy, but the intensity fades with time such that these individuals have sclerae of normal hue by adolescence and adult life.