Brittle Cornea Syndrome

Common Name(s)

Brittle Cornea Syndrome, Corneal fragility keratoglobus, blue sclerae AND joint hypermobility

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. 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.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Brittle Cornea Syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Brittle Cornea Syndrome" returned 8 free, full-text research articles on human participants. First 3 results:

Bruch's membrane abnormalities in PRDM5-related brittle cornea syndrome.
 

Author(s): Louise F Porter, Roberto Gallego-Pinazo, Catherine L Keeling, Martyna Kamieniorz, Nicoletta Zoppi, Marina Colombi, Cecilia Giunta, Richard Bonshek, Forbes D Manson, Graeme C Black

Journal:

 

Brittle cornea syndrome (BCS) is a rare, generalized connective tissue disorder associated with extreme corneal thinning and a high risk of corneal rupture. Recessive mutations in transcription factors ZNF469 and PRDM5 cause BCS. Both transcription factors are suggested to act on ...

Last Updated: 12 Nov 2015

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A role for repressive complexes and H3K9 di-methylation in PRDM5-associated brittle cornea syndrome.
 

Author(s): Louise F Porter, Giorgio G Galli, Sally Williamson, Julian Selley, David Knight, Nursel Elcioglu, Ali Aydin, Mustafa Elcioglu, Hanka Venselaar, Anders H Lund, Richard Bonshek, Graeme C Black, Forbes D Manson

Journal: Hum. Mol. Genet.. 2015 Dec;24(23):6565-79.

 

Type 2 brittle cornea syndrome (BCS2) is an inherited connective tissue disease with a devastating ocular phenotype caused by mutations in the transcription factor PR domain containing 5 (PRDM5) hypothesized to exert epigenetic effects through histone and DNA methylation. Here we ...

Last Updated: 6 Nov 2015

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ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components.
 

Author(s): Marianne Rohrbach, Helen L Spencer, Louise F Porter, Emma M M Burkitt-Wright, Céline Bürer, Andreas Janecke, Madhura Bakshi, David Sillence, Hailah Al-Hussain, Matthias Baumgartner, Beat Steinmann, Graeme C M Black, Forbes D C Manson, Cecilia Giunta

Journal: Mol. Genet. Metab.. 2013 Jul;109(3):289-95.

 

Brittle cornea syndrome (BCS; MIM 229200) is an autosomal recessive generalized connective tissue disorder caused by mutations in ZNF469 and PRDM5. It is characterized by extreme thinning and fragility of the cornea that may rupture in the absence of significant trauma leading to ...

Last Updated: 17 Jun 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Brittle Cornea Syndrome" returned 1 free, full-text review articles on human participants. First 3 results:

Brittle cornea syndrome: recognition, molecular diagnosis and management.
 

Author(s): Emma M M Burkitt Wright, Louise F Porter, Helen L Spencer, Jill Clayton-Smith, Leon Au, Francis L Munier, Sarah Smithson, Mohnish Suri, Marianne Rohrbach, Forbes D C Manson, Graeme C M Black

Journal:

 

Brittle cornea syndrome (BCS) is an autosomal recessive disorder characterised by extreme corneal thinning and fragility. Corneal rupture can therefore occur either spontaneously or following minimal trauma in affected patients. Two genes, ZNF469 and PRDM5, have now been identified, ...

Last Updated: 21 May 2013

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.