Brittle cornea syndrome: recognition, molecular diagnosis and management.

Détails

Ressource 1Télécharger: BIB_0B2C51F1C9B0.P001.pdf (1285.69 [Ko])
Etat: Public
Version: Final published version
ID Serval
serval:BIB_0B2C51F1C9B0
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
Brittle cornea syndrome: recognition, molecular diagnosis and management.
Périodique
Orphanet Journal of Rare Diseases
Auteur(s)
Burkitt Wright E.M., Porter L.F., Spencer H.L., Clayton-Smith J., Au L., Munier F.L., Smithson S., Suri M., Rohrbach M., Manson F.D., Black G.C.
ISSN
1750-1172 (Electronic)
ISSN-L
1750-1172
Statut éditorial
Publié
Date de publication
2013
Peer-reviewed
Oui
Volume
8
Pages
68
Langue
anglais
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't ; Review Publication Status: epublish
Résumé
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.
Mots-clé
Adolescent, DNA-Binding Proteins/genetics, Ehlers-Danlos Syndrome/diagnosis, Ehlers-Danlos Syndrome/genetics, Female, Humans, Mutation, Transcription Factors/genetics
Pubmed
Open Access
Oui
Création de la notice
03/03/2014 14:13
Dernière modification de la notice
20/08/2019 12:32
Données d'usage