View abstract

This abstract is assigned to session AOB Poster session 2 - Inflammatory pathology – Anterior segment – Ophthalmogenetics - Miscellaneous

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

Purpose	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.
Methods	Three patients, who presented with bilateral lens subluxation underwent an extensive clinical and genetic work-up.
Results	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.
Conflict of interest	No

Authors 1

Last name	ACCOU
Initials	G.
Department	Dept of Ophthalmology, Ghent University Hospital
City	Ghent

Authors 2

Last name	Depasse
Initials	F

Authors 3

Last name	Desir
Initials	J

Authors 4

Last name	Coucke
Initials	P
Department	Ctr for Medical Genetics, Ghent University Hospital
City	Ghent

Authors 5

Last name	Leroy
Initials	BP
Department	Dept of Ophthalmology, Ctr for Medical Genetics, Ghent University Hospital,CHOP
City	Ghent, Philadelphia

Authors 6

Last name	Balikova
Initials	I
Department	.Dept of Ophthalmology, Ghent University Hospital, Dept of Ophthalmology, Hôpital Erasme
City	Ghent, Brussels