Brittle cornea syndrome

Disease Overview

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.[15303] 

There are 2 types of BCS. BCS type 1 is caused by changes (mutations) in the ZNF469 gene and BCS type 2 is caused by changes in the PRDM5 gene. BCS is inherited in an autosomal recessive manner.[15303][4973][4974] The diagnosis of BCS is made based on symptoms and may be confirmed through genetic testing. Management of BCS may include monitoring for vision loss, hearing loss, and the development of muscle or skeletal problems. Measures to prevent corneal rupture, such as wearing special protective glasses, may help delay vision loss. Other treatments may include corrective lenses (glasses), hearing aids, correcting hip dysplasia, and repairing retinal detachment.[15303]

Synonyms

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