Brittle Cornea Syndrome Overview

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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.
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
Who are the top Brittle Cornea Syndrome Local Doctors?
Elite in Brittle Cornea Syndrome
Veronique Vitart
Elite in Brittle Cornea Syndrome
Veronique Vitart
Crewe Road, 
Edinburgh, SCT, GB 

Veronique Vitart practices in Edinburgh, United Kingdom. Ms. Vitart is rated as an Elite expert by MediFind in the treatment of Brittle Cornea Syndrome. Her top areas of expertise are Brittle Cornea Syndrome, Nearsightedness, Gout, Keratoconus, and Trabeculectomy.

Elite in Brittle Cornea Syndrome
Chloe M. Stanton
Elite in Brittle Cornea Syndrome
Chloe M. Stanton
Edinburgh, SCT, GB 

Chloe Stanton practices in Edinburgh, United Kingdom. Ms. Stanton is rated as an Elite expert by MediFind in the treatment of Brittle Cornea Syndrome. Her top areas of expertise are Brittle Cornea Syndrome, Late-Onset Retinal Degeneration, Age-Related Macular Degeneration (ARMD), and Chromosome 10q Deletion.

 
 
 
 
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Elite in Brittle Cornea Syndrome
Louise F. Porter
Elite in Brittle Cornea Syndrome
Louise F. Porter
Leeds, ENG, GB 

Louise Porter practices in Leeds, United Kingdom. Ms. Porter is rated as an Elite expert by MediFind in the treatment of Brittle Cornea Syndrome. Her top areas of expertise are Brittle Cornea Syndrome, Ehlers-Danlos Syndrome (EDS), Hypermobile Joints, Stickler Syndrome, and Cataract Removal.

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center