Learn About Brittle Cornea Syndrome

What is the definition of Brittle Cornea Syndrome?
Brittle cornea syndrome (BCS) is a genetic disease involving the connective tissue in the eyes, ears, joints, and skin. The symptoms of BCS typically involve thinning of the protective outer layer of the eye (cornea), which may lead to tearing or rupture after minor damage to the cornea. Other eye symptoms may include nearsightedness (myopia), a blueish tint in the white part of the eyes (blue sclera), and retinal detachment. Other symptoms may include hearing loss, abnormal positioning of the hip bones (hip dysplasia), and soft skin with abnormal scarring. There are 2 types of BCS. BCS type 1 is caused by changes in the ZNF469 gene and BCS type 2 is caused by changes in the PRDM5 gene. BCS is inherited in an autosomal recessive manner. The diagnosis of BCS is made based on symptoms and may be confirmed through genetic testing.
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What are the alternative names for Brittle Cornea Syndrome?
  • Brittle cornea syndrome
  • 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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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center

What are the Latest Advances for Brittle Cornea Syndrome?

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