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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

  • Agarwal A, Jacob S (2010) Color atlas of ophthalmology, 2nd edn. Thieme, New York, pp 133–134

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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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  • Kanski JJ, Bowling B (2011) Clinical ophthalmology: a systematic approach, 7th edn. Elsevier, London, pp 251–267

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Author information

Authors and Affiliations

  1. Imperial College London School of Medicine, South Kensington Campus, Exhibition Rd, SW7 2AZ, London, UK

    Aazim A. Siddiqui

  2. Johns Hopkins University School of Medicine, Baltimore, MD, USA

    Allen O. Eghrari

  3. Cornea and Anterior Segment, Wilmer Eye Institute at Johns Hopkins, 1800 Orleans Street, Maumenee 321, Baltimore, MD, 21287, USA

    Allen O. Eghrari

Authors
  1. Aazim A. Siddiqui
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  2. Allen O. Eghrari
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Corresponding author

Correspondence to Aazim A. Siddiqui .

Editor information

Editors and Affiliations

  1. Dept of Ophthal & Optometry,AKH, Medical University of Wien Dept of Ophthal & Optometry,AKH, Wien, Austria

    Ursula Schmidt-Erfurth

  2. Department of Ophthalmology, Goethe University of Frankfurt am Main Department of Ophthalmology, Frankfurt am Main, Germany

    Thomas Kohnen

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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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