Abstract

P 016

Ophthalmologic findings in Cornelia-de-Lange-syndrome

Mücke I., Seitz B., Käsmann-Kellner B.
Department of Paediatric and Neuroophthalmology, Low Vision University Eye Hospital, University of Saarland in Homburg/Saar

Objective: Cornelia-de-Lange-syndrome (CdLS; OMIM: 122470) is a congenital developmental malformation disorder with a sporadic prevalence. It is characterized by distinctive facial features, microcephaly, delayed growth and small stature, skeletal anomalies, excessive body hair, behaviour problems, mental and motor retardation, development delay and internal diseases. Frequent ophthalmologic findings are high myopia, nystagmus and ptosis.
Results: Three girls (1, 18, 19 years old) are presented with the physical and developmental characteristics of CdLS and various ophthalmological findings. A 19-year-old woman has binocular keratoconus with corneal scares as well as optic nerve atrophy, nystagmus and convergent strabismus. Visual acuity is 0.01. The 18-year-old girl suffers from high myopia. On the right eye there is a dense vascularized corneal scar after recurrent chalazia, blepharitis and trichiasis in childhood in both eyes. Other ophthalmologic findings are optic nerve atrophy and nystagmus as well as convergent strabismus OD. Testing visual acuity, only mirror-induced slow eye movements can be elicited. Besides a hearing impairment, there are multiple skeletal anomalies and an intestinal malrotation, which was treated surgically. The third and youngest one year-old girl has a binocular optic nerve atrophy and nystagmus. On the right eye there is a congenital ptosis, nasolacrimal duct stenosis and divergent strabismus. Furthermore an atrial septum defect, a hearing impairment, a Pierre-Robin-sequence, dysmorphic skeletal features and vesicoureteral reflux are present.
Conclusions: Many different ophthalmological manifestations can occur in CdLS. Beside the physical impairments like motor and feeding problems, hearing impairment and reduction of the visual acuity, caring problems result from behaviour anomalies and self-injurious and autistic-like behaviour. Early infant stimulation programs and other developmental and therapeutic interventions should be recommended to help the children to reach their full potentials.

Copyright: Porstmann Kongresse GmbH. All rights reserved. Impressum, Disclaimer.