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 |
Naam | ACCOU |
Initialen | G. |
Instituut | Dept of Ophthalmology, Ghent University Hospital |
Stad | Ghent |
Naam | Depasse |
Initialen | F |
Naam | Desir |
Initialen | J |
Naam | Coucke |
Initialen | P |
Instituut | Ctr for Medical Genetics, Ghent University Hospital |
Stad | Ghent |
Naam | Leroy |
Initialen | BP |
Instituut | Dept of Ophthalmology, Ctr for Medical Genetics, Ghent University Hospital,CHOP |
Stad | Ghent, Philadelphia |
Naam | Balikova |
Initialen | I |
Instituut | .Dept of Ophthalmology, Ghent University Hospital, Dept of Ophthalmology, Hôpital Erasme |
Stad | Ghent, Brussels |