PEDIATRICS Amniotic bands as a cause of congenital anterior staphyloma Charlotte Schramm & Jens M. Rohrbach & Siegmar Reinert & Ulrike A. Mau-Holzmann & Sabine Aisenbrey & Karl-Ulrich Bartz-Schmidt & Dorothea Besch Received: 1 April 2012 / Revised: 15 September 2012 / Accepted: 30 October 2012 / Published online: 13 November 2012 # Springer-Verlag Berlin Heidelberg 2012 Abstract Background Congenital anterior staphyloma is a rare, com- plex malformation syndrome of the anterior segment. Only a few reports on associated systemic malformations have been published. We herein present a rare manifestation of con- genital anterior staphyloma (CAS) combined with amniotic band disruption syndrome (ABS). Patient and methods Shortly after birth, a massive enlarge- ment of the left eye was observed in a female child. Fur- thermore, an extensive bilateral congenital cleft lip and cleft alveolar ridge with oblique facial cleft extending into the left medial canthal region, coloboma(s) of the left eyelids, ex- tensive adhesions between lids and eye bulb, as well as circumferential grooves, clubfeet, and terminal transverse defects in both hands and feet were present. Due to severe progression of eye bulb protrusion with thinning of the sclera, enucleation of the left eye was performed at the age of 3 years in order to prevent complications including per- foration of the globe and with the aim of improving cosmet- ic aspects. Results Histopathological examination of the enucleated eye disclosed findings typical of congenital anterior staphyloma, including massive corneal staphylomatic defor- mation with superficial vascularization and elapsed cor- neoscleral margin, destruction of Bowman’ s layer, absence of Descemet’ s layer, corneal endothelium, and angle struc- tures. The lens was only partially formed, and had mainly dissolved. The neural retina appeared normal. The optic nerve disc revealed a pronounced excavation. Facial clefts, lid colobomas, congenital constriction bands, and amputa- tion of distal limbs match ABS. This malformation complex develops in early pregnancy, probably prior to 35 days post conception. Conclusion This is the first report on an association of these two rare complex congenital malformations, congenital an- terior staphyloma and amniotic band syndrome. The anterior staphyloma was unilateral, and related to facial clefts and lid coloboma in the area adjacent to the anterior staphyloma. Furthermore, the systemic deformities are clearly due to the amniotic bands, and the timing of the development of both complex malformations seems to be similar. All findings suggest that the presence of amniotic bands is a causative factor for all observed abnormalities including anterior staphyloma. Keywords Corneal staphyloma . Anterior chamber agenesia . Microphakia . Coloboma . Facial cleft . Amniotic band disruption syndrome Introduction Congenital anterior staphyloma (CAS) also named “congen- ital cornea staphyloma”, is a rare congenital disorder com- monly characterized by an enlarged and disorganized anterior segment. The cornea is usually opaque, enlarged, and superficially vascularized without a sharp border be- tween cornea and sclera. Complex anterior segment C. Schramm : J. M. Rohrbach : S. Aisenbrey : K.-U. Bartz-Schmidt : D. Besch (*) Department of Ophthalmology, University Hospital Tübingen, Schleichstr. 12-16, 72076 Tübingen, Germany e-mail: dorothea.besch@med.uni-tuebingen.de S. Reinert Department of Oral and Maxillofacial Surgery, University Hospital Tübingen, Osianderstr. 2-8, 72076 Tübingen, Germany U. A. Mau-Holzmann Medical Genetics, University Hospital Tübingen, Calwerstrasse 7, 72076 Tübingen, Germany Graefes Arch Clin Exp Ophthalmol (2013) 251:959–965 DOI 10.1007/s00417-012-2197-z