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Cet abstract a été assigné à session AOB Poster session 2 - Inflammatory pathology – Anterior segment – Ophthalmogenetics - Miscellaneous

Titre	Three casas of lens subluxation reveal variable etiology
Abstract Nr.	2029

But	Ectopia lentis (EL) is a partial or complete displacement of the lens. It can either be a congenital or an acquired condition. We present 3 patients with lens subluxation (partial EL), with different etiologies. The purpose is to describe the ophthalmological, systemic and molecular work-up of patients with EL.
Méthodes	Three patients, who presented with bilateral lens subluxation underwent an extensive clinical and genetic work-up.
Résultats	The age at presentation varied from 2, over 5 to 20 years for patients 1 (P1), 2 (P2) and 3 (P3) respectively. All patients showed bilateral lens subluxation. The direction of subluxation was superonasal (P1), inferonasal with zonulolysis (P2) and nasal with zonulectasia (P3). P1 had no additional systemic abnormalities. P2 had intellectual disability, long stature and pectus excavatum. A systemic work up in P3 revealed long stature, arachnodactyly and dilated aortic root with mitral valve insufficiency. Molecular testing revealed biallelic ADAMTSL4 mutations (P1), and CBS mutations (Homocystinuria) (P2), and a heterozygous FBN1 mutation (Marfan syndrome) (P3)
Conclusion	A diagnosis of a bilateral lens subluxation in a child without history of trauma, warrants a careful ophthalmological examination and systemic work up. A detailed eye examination can help elucidate the underlying cause.
Conflit d'intérêt	Non

Auteur 1

Nom	ACCOU
Initiales	G.
Institut	Dept of Ophthalmology, Ghent University Hospital
Ville	Ghent

Auteur 2

Nom	Depasse
Initiales	F

Auteur 3

Nom	Desir
Initiales	J

Auteur 4

Nom	Coucke
Initiales	P
Institut	Ctr for Medical Genetics, Ghent University Hospital
Ville	Ghent

Auteur 5

Nom	Leroy
Initiales	BP
Institut	Dept of Ophthalmology, Ctr for Medical Genetics, Ghent University Hospital,CHOP
Ville	Ghent, Philadelphia

Auteur 6

Nom	Balikova
Initiales	I
Institut	.Dept of Ophthalmology, Ghent University Hospital, Dept of Ophthalmology, Hôpital Erasme
Ville	Ghent, Brussels