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Blue Sclera

Definition

Blue sclera refers to thinning and subsequent transparency of scleral type I collagen, which allows increased visibility of underlying choroidal pigment, giving sclera a seemingly blue appearance. Osteogenesis imperfecta (OI) is a hereditary disorder of type I collagen production, and patients with this condition demonstrate a diffuse blue appearance to the sclera (Agarwal and Jacob 2010; Basak 2011).

Etiology

Blue sclera is the most consistent manifestation of OI, which results from a mutation in COLIA1 and COL1A2, coding for type I procollagen. However, classifications of this condition (types IV–VI) have been identified with normal sclerae. This rare disorder is also associated with abnormal fragility of bones and deafness.

Brittle cornea, blue sclera, and red hair are associated with the brittle cornea syndrome, a condition that also presents with skeletal, dental, and skin abnormalities. A missense mutation in ZNF469 has been found to be causative for disease.

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Keywords

  • Osteogenesis Imperfecta
  • Turner Syndrome
  • Marfan Syndrome
  • Connective Tissue Disorder
  • Ectodermal Dysplasia

These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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References

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  • Basak SK (2011) Jaypee gold standard mini atlas series, diseases of the cornea. JP Medical Ltd, London, p 366

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Correspondence to Aazim A. Siddiqui .

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© 2014 Springer-Verlag Berlin Heidelberg

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Siddiqui, A.A., Eghrari, A.O. (2014). Blue Sclera. In: Schmidt-Erfurth, U., Kohnen, T. (eds) Encyclopedia of Ophthalmology. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-35951-4_578-1

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  • DOI: https://doi.org/10.1007/978-3-642-35951-4_578-1

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  • Publisher Name: Springer, Berlin, Heidelberg

  • Online ISBN: 978-3-642-35951-4

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