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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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Your Question

My daughter was born in 2000. She has sclerocornea in her right eye and a coloboma in her left eye. She also has red hair and is missing some molars. We are Caucasian. From what I can find brittle cornea syndrome is found in Middle Eastern races. Is it possible she could have this being white?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is brittle cornea syndrome?

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

In what ethnicities have individuals with brittle cornea syndrome been reported?

Most individuals reported with brittle cornea syndrome (BCS) are from countries in the Middle East and North Africa.[2] A number of affected families are of Tunisian Jewish origin.[3] The condition has also reportedly affected one family from Germany and Ireland, and another family of Norwegian descent.[1][2]
Last updated: 2/17/2012

References
  • 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.
  • 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.
  • Marla J. F. O'Neill. BRITTLE CORNEA SYNDROME 1; BCS1. OMIM. August 12, 2011; http://omim.org/entry/229200. Accessed 2/17/2012.
  • Marla J. F. O'Neill. BRITTLE CORNEA SYNDROME 2; BCS2. OMIM. August 17, 2011; http://omim.org/entry/614170. Accessed 2/17/2012.