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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...
Autores principales: | , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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BioMed Central
2013
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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. |
format | Online Article Text |
id | pubmed-3659006 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2013 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
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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