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Brittle cornea syndrome: recognition, molecular diagnosis and management

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, in which causati...

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Autores principales: Burkitt Wright, Emma MM, Porter, Louise F, Spencer, Helen L, Clayton-Smith, Jill, Au, Leon, Munier, Francis L, Smithson, Sarah, Suri, Mohnish, Rohrbach, Marianne, Manson, Forbes DC, Black, Graeme CM
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3659006/
https://www.ncbi.nlm.nih.gov/pubmed/23642083
http://dx.doi.org/10.1186/1750-1172-8-68
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author Burkitt Wright, Emma MM
Porter, Louise F
Spencer, Helen L
Clayton-Smith, Jill
Au, Leon
Munier, Francis L
Smithson, Sarah
Suri, Mohnish
Rohrbach, Marianne
Manson, Forbes DC
Black, Graeme CM
author_facet Burkitt Wright, Emma MM
Porter, Louise F
Spencer, Helen L
Clayton-Smith, Jill
Au, Leon
Munier, Francis L
Smithson, Sarah
Suri, Mohnish
Rohrbach, Marianne
Manson, Forbes DC
Black, Graeme CM
author_sort Burkitt Wright, Emma MM
collection PubMed
description 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, in which causative pathogenic mutations collectively account for the condition in nearly all patients with BCS ascertained to date. Therefore, effective molecular diagnosis is now available for affected patients, and those at risk of being heterozygous carriers for BCS. We have previously identified mutations in ZNF469 in 14 families (in addition to 6 reported by others in the literature), and in PRDM5 in 8 families (with 1 further family now published by others). Clinical features include extreme corneal thinning with rupture, high myopia, blue sclerae, deafness of mixed aetiology with hypercompliant tympanic membranes, and variable skeletal manifestations. Corneal rupture may be the presenting feature of BCS, and it is possible that this may be incorrectly attributed to non-accidental injury. Mainstays of management include the prevention of ocular rupture by provision of protective polycarbonate spectacles, careful monitoring of visual and auditory function, and assessment for skeletal complications such as developmental dysplasia of the hip. Effective management depends upon appropriate identification of affected individuals, which may be challenging given the phenotypic overlap of BCS with other connective tissue disorders.
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spelling pubmed-36590062013-05-21 Brittle cornea syndrome: recognition, molecular diagnosis and management Burkitt Wright, Emma MM Porter, Louise F Spencer, Helen L Clayton-Smith, Jill Au, Leon Munier, Francis L Smithson, Sarah Suri, Mohnish Rohrbach, Marianne Manson, Forbes DC Black, Graeme CM Orphanet J Rare Dis Research 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, in which causative pathogenic mutations collectively account for the condition in nearly all patients with BCS ascertained to date. Therefore, effective molecular diagnosis is now available for affected patients, and those at risk of being heterozygous carriers for BCS. We have previously identified mutations in ZNF469 in 14 families (in addition to 6 reported by others in the literature), and in PRDM5 in 8 families (with 1 further family now published by others). Clinical features include extreme corneal thinning with rupture, high myopia, blue sclerae, deafness of mixed aetiology with hypercompliant tympanic membranes, and variable skeletal manifestations. Corneal rupture may be the presenting feature of BCS, and it is possible that this may be incorrectly attributed to non-accidental injury. Mainstays of management include the prevention of ocular rupture by provision of protective polycarbonate spectacles, careful monitoring of visual and auditory function, and assessment for skeletal complications such as developmental dysplasia of the hip. Effective management depends upon appropriate identification of affected individuals, which may be challenging given the phenotypic overlap of BCS with other connective tissue disorders. BioMed Central 2013-05-04 /pmc/articles/PMC3659006/ /pubmed/23642083 http://dx.doi.org/10.1186/1750-1172-8-68 Text en Copyright © 2013 Burkitt Wright et al.; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research
Burkitt Wright, Emma MM
Porter, Louise F
Spencer, Helen L
Clayton-Smith, Jill
Au, Leon
Munier, Francis L
Smithson, Sarah
Suri, Mohnish
Rohrbach, Marianne
Manson, Forbes DC
Black, Graeme CM
Brittle cornea syndrome: recognition, molecular diagnosis and management
title Brittle cornea syndrome: recognition, molecular diagnosis and management
title_full Brittle cornea syndrome: recognition, molecular diagnosis and management
title_fullStr Brittle cornea syndrome: recognition, molecular diagnosis and management
title_full_unstemmed Brittle cornea syndrome: recognition, molecular diagnosis and management
title_short Brittle cornea syndrome: recognition, molecular diagnosis and management
title_sort brittle cornea syndrome: recognition, molecular diagnosis and management
topic Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3659006/
https://www.ncbi.nlm.nih.gov/pubmed/23642083
http://dx.doi.org/10.1186/1750-1172-8-68
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