Université de Médecine et Pharmacie « Iuliu Hatieganu », Cluj, Roumanie, séction : Médecine générale, 1998-2004
Spécialisation en ophtalmologie 2006-2010
2017-2018: "Bourse Françoise Timmermans" | 2018-2019
Investigation of specific ophthalmological findings to be correlated with genetic and pathophysiologic aspects of Trisomy 21
Hôpital des Enfants Reine Fabiola, Brussels
The aim of this study is to gain a better understanding of the ocular anomalies in children with
Down syndrome. This will help to improve the role of the ophthalmological examination in
screening and diagnosis and, at the same time to use the ocular exam as a means to predict other
non-ocular pathologies that those with Down syndrome are at increased risk for.
We have divided these into three sections based on three different concepts:
a) Analysing Brushfield spots’ and Wolfflin nodules real prevalence will help to establish their pathophysiological mechanism and to make correlations between other oculars as well as systemic features of Down syndrome.
b) We will try to determine if ocular particularities in Down syndrome patients (i.e., supranumerary optic disc vessels) can be correlated with serum level of anti-angiogenetic factors to determine the high-risk patients for several severe pathologies which are known to constitute major causes 3 of morbidity and mortality in this chromosomal anomaly. That will help to identify which of them need specific screening and constituting new protocols adapted to each individual.
c) A complete analysis of the ophthalmological status, including the impact of the hypoaccommodation on visual acuity, strabismus and nystagmus will be done. This will help for a better understanding of their ophthalmological problems.