THE BELGIAN OPHTHALMIC ASSOCIATIONS
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Cet abstract a été assigné à session AOB Poster session 2 - Inflammatory pathology – Anterior segment – Ophthalmogenetics - Miscellaneous
| Titre | Microcoria due to a duplication at chromosome 13q32 and maternal mosaicism |
| Abstract Nr. | 2034 |
| But | Microcoria is a congenital eye anomaly characterized by small pupillary opening. It is caused by an anomaly of the iris with absence of the muscle dilator of the pupil. In this case report, we describe a patient with non-syndromic microcoria du to a small duplication of the long arm of chromosome 13. |
| Méthodes | A 18-month-old girl is examined with no prior medical history. Refraction is impossible and dilatation cannot be obtained with cyclopentolate or atropine. The slit lamp examination shows a blue iris with very small pupils. Iris hypoplasia with absence of iris crypts and contraction folds is observed. The intraocular pressure (IOP) is normal in both eyes. The fundus is inaccessible because of the very small pupils. We performed biometry, tonometry, gonioscopy and fundus examination under narcosis. All examinations are normal. During the clinical follow up IOP is followed. We performed a genetic testing. |
| Résultats | The genetic anomaly observed is inherited by the mother, carrier of the duplication in a mosaic form. She presents a mild ocular phenotype. The duplication is detected by array comparative genomic hybridization. The exact breakpoints are characterized molecularly. |
| Conclusion | This case report confirms the previously reported locus on chromosome 13q as causal for non syndromic microcoria. This is the first description of a duplication in a patient with this phenotype and the presence of parental mosaicism. The possibility of mosaicism should be considered when genetic counselling is offered to the families. |
| Conflit d'intérêt | Non |
Auteur 1
| Nom | POZZA |
| Initiales | E |
| Institut | C.H.U. Saint-Pierre |
| Ville | Brussels |
Auteur 2
| Nom | Verdin |
| Initiales | H |
| Institut | U. Gent |
| Ville | Ghent |
Auteur 3
| Nom | Menten |
| Initiales | B |
| Institut | U. Gent |
| Ville | Ghent |
Auteur 4
| Nom | Deconinck |
| Initiales | H |
| Institut | Cliniques Sud Luxembourg |
| Ville | Arlon |
Auteur 5
| Nom | Postolache |
| Initiales | L |
| Institut | HUDERF |
| Ville | Brussels |
Auteur 6
| Nom | De Baere |
| Initiales | E |
| Institut | U. Gent |
| Ville | Ghent |
Auteur 7
| Nom | Van Schil |
| Initiales | K |
| Institut | U. Gent |
| Ville | Ghent |
Auteur 8
| Nom | Balikova |
| Initiales | I |
| Institut | HUDERF |
| Ville | Brussels |