Corneal Opacities in Trisomy 8 Mosaic Syndrome : Clinical, Histologic and Genetic Features

Détails

ID Serval
serval:BIB_31D052B6CF3E
Type
Actes de conférence (partie): contribution originale à la littérature scientifique, publiée à l'occasion de conférences scientifiques, dans un ouvrage de compte-rendu (proceedings), ou dans l'édition spéciale d'un journal reconnu (conference proceedings).
Sous-type
Abstract (résumé de présentation): article court qui reprend les éléments essentiels présentés à l'occasion d'une conférence scientifique dans un poster ou lors d'une intervention orale.
Collection
Publications
Titre
Corneal Opacities in Trisomy 8 Mosaic Syndrome : Clinical, Histologic and Genetic Features
Titre de la conférence
Investigative Ophthalmology and Visual Science
Auteur(s)
Gaillard M.C., Majo F., Moulin A., Uffer S., Marinet D., Niel Bütschi F., Munier f.l..
Organisation
ARVO E-Abstract 4654/D849
Statut éditorial
Publié
Date de publication
2010
Peer-reviewed
Oui
Volume
51
Langue
anglais
Résumé
Purpose:
To describe the clinical, histologic and genetic findings of corneal opacities in the trisomy 8 mosaic syndrome.
Methods:
3 children aged 8 years (Patients A), 6 years (Patients B) and 1 month (Patients C) respectively, were referred with corneal opacities for ophthalmologic evaluation. The 2 older patients had been previously diagnosed with trisomy 8 mosaicism, while the third was diagnosed after the ocular examination. Automated lamellar keratoplasty (ALTK) was performed on the most amblyopic eye. Histopathologic analysis with immunohistochemical markers and cytogenetic studies by FISH using haploid probes for chromosome 8 and chromosome 16 (control) were performed on the excised corneal lesion.
Results:
All patients presented vascularized corneal opacities involving the superficial stroma, and amblyopia with a bilateral involvement in two of them (Patients A and B). Post-operative follow-up (range 6-20 months) was satisfactory, with the graft remaining clear and improved visual acuity, allowing iso-acuity and stereoscopy in the one month old child (Patients C).
The clinically observed corneal opacities corresponded histopathologically to the replacement of the normal anterior corneal stroma by a choristomatous loose richly vascularized connective tissue containing mucopolysacharides. Bowman's membrane was absent. There were no adnexal structures. The overlaying epithelium expressed keratin 3 in all three cases. Keratin 19 was found in the suprabasal epithelial cells in one case but was absent in the other cases. There were no expression of keratin 7 and 1 as well as MUC5AC in the epithelial cells.
FISH analysis from 100 interphase cells of the affected tissue and normal conjontival probe revealed normal diploid cells.
Conclusions:
In this series, the corneal opacities associated with trisomy 8 mosaic syndrome share a common clinical, histopathological and genetic features. ALTK should be considered at diagnosis to prevent amblyopia in these children.
Création de la notice
23/01/2011 17:21
Dernière modification de la notice
20/08/2019 13:17
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