Skip to main content

Blue Sclera


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).


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.



  • 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.

This is a preview of subscription content, access via your institution.


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

    Google Scholar 

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

    Google Scholar 

  • Hoyt CS, Taylor D (2012) Pediatric ophthalmology and strabismus, 4th edn. Elsevier, Berlin, p 318

    Google Scholar 

  • Hunt K (2002) Core curriculum for ophthalmic nursing, 2nd edn. Asorn, Dubuque, Iowa, pp 397–398

    Google Scholar 

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

    Google Scholar 

Download references

Author information

Authors and Affiliations


Corresponding author

Correspondence to Aazim A. Siddiqui .

Editor information

Editors and Affiliations

Rights and permissions

Reprints and Permissions

Copyright information

© 2014 Springer-Verlag Berlin Heidelberg

About this entry

Cite this entry

Siddiqui, A.A., Eghrari, A.O. (2014). Blue Sclera. In: Schmidt-Erfurth, U., Kohnen, T. (eds) Encyclopedia of Ophthalmology. Springer, Berlin, Heidelberg.

Download citation

  • DOI:

  • Received:

  • Accepted:

  • Published:

  • Publisher Name: Springer, Berlin, Heidelberg

  • Online ISBN: 978-3-642-35951-4

  • eBook Packages: Springer Reference MedicineReference Module Medicine