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

Details

Serval ID
serval:BIB_31D052B6CF3E
Type
Inproceedings: an article in a conference proceedings.
Publication sub-type
Abstract (Abstract): shot summary in a article that contain essentials elements presented during a scientific conference, lecture or from a poster.
Collection
Publications
Title
Corneal Opacities in Trisomy 8 Mosaic Syndrome : Clinical, Histologic and Genetic Features
Title of the conference
Investigative Ophthalmology and Visual Science
Author(s)
Gaillard M.C., Majo F., Moulin A., Uffer S., Marinet D., Niel Bütschi F., Munier f.l..
Organization
ARVO E-Abstract 4654/D849
Publication state
Published
Issued date
2010
Peer-reviewed
Oui
Volume
51
Language
english
Abstract
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.
Create date
23/01/2011 17:21
Last modification date
20/08/2019 13:17
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