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Genetic and Rare Diseases Information Center (GARD)

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Brittle cornea syndrome


Other Names for this Disease

  • Corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility
  • Dysgenesis mesodermalis corneae et sclerae
  • EDS VIB (formerly)
  • Ehlers-Danlos syndrome type 6B (formerly)
  • Fragilitas oculi with joint hyperextensibility
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Overview

Brittle cornea syndrome (BCS) is a type of connective tissue disorder that mainly affects the eyes, joints and skin. Signs and symptoms may include rupture of the cornea after only minor trauma; degeneration of the cornea (keratoconus) or thinning and protrusion of the cornea (keratoglobus); bluish tint in the white part of the eyes (blue sclerae); hypermobile joints; hyperelastic skin; hearing defects; and dental abnormalities.[1][2] There are 2 types of BCS which are distinguished by the mutated gene that causes the condition. BCS type 1 is caused by mutations in the ZNF469 gene and BCS type 2 is caused by mutations in the PRDM5 gene. BCS is inherited in an autosomal recessive manner.[3][4]
Last updated: 2/17/2012

References

  1. Al-Hussain H, Zeisberger SM, Huber PR, Giunta C, Steinmann B. Brittle cornea syndrome and its delineation from the kyphoscoliotic type of Ehlers–Danlos syndrome (EDS VI): Report on 23 patients and review of the literature. Am J Med Genet A. January 1, 2004; 124A(1):28-34.
  2. Anne E. Christensen et al. Brittle Cornea Syndrome Associated with a Missense Mutation in the Zinc-Finger 469 Gene. Invest. Ophthalmol. Vis. Sci. January 2010; 51(1):47-52. http://www.iovs.org/content/51/1/47.full. Accessed 2/17/2012.
  3. Marla J. F. O'Neill. BRITTLE CORNEA SYNDROME 1; BCS1. OMIM. August 12, 2011; http://omim.org/entry/229200. Accessed 2/17/2012.
  4. Marla J. F. O'Neill. BRITTLE CORNEA SYNDROME 2; BCS2. OMIM. August 17, 2011; http://omim.org/entry/614170. Accessed 2/17/2012.
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In Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
    Brittle cornea syndrome 1
    Brittle cornea syndrome 2
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Brittle cornea syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility
  • Dysgenesis mesodermalis corneae et sclerae
  • EDS VIB (formerly)
  • Ehlers-Danlos syndrome type 6B (formerly)
  • Fragilitas oculi with joint hyperextensibility
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.