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Deze abstract is toegekend aan sessie AOB Poster session 2 - Inflammatory pathology – Anterior segment – Ophthalmogenetics - Miscellaneous

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

Doel	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.
Methodes	Three patients, who presented with bilateral lens subluxation underwent an extensive clinical and genetic work-up.
Resultaten	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)
Conclusie	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.
Belangenverstrengeling	Nee

Auteur 1

Naam	ACCOU
Initialen	G.
Instituut	Dept of Ophthalmology, Ghent University Hospital
Stad	Ghent

Auteur 2

Naam	Depasse
Initialen	F

Auteur 3

Naam	Desir
Initialen	J

Auteur 4

Naam	Coucke
Initialen	P
Instituut	Ctr for Medical Genetics, Ghent University Hospital
Stad	Ghent

Auteur 5

Naam	Leroy
Initialen	BP
Instituut	Dept of Ophthalmology, Ctr for Medical Genetics, Ghent University Hospital,CHOP
Stad	Ghent, Philadelphia

Auteur 6

Naam	Balikova
Initialen	I
Instituut	.Dept of Ophthalmology, Ghent University Hospital, Dept of Ophthalmology, Hôpital Erasme
Stad	Ghent, Brussels