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Abstract
Abstract
Ophthalmological Manifestation in VACTERL Syndrome
Schüller C, Schneider M
Medical Centre for Ophthalmology, Philipps University Marburg
Purpose: The VACTERL association is described as a very rare malformation syndrome of various organ systems. The main defects included are vertebral defects (V), atresia anorectal (A), cardiac anomalies (A), tracheoesophageal fistula (T) with esophageal atresia, renal anomalies (R), and upper limb defects (L). Ophthalmological manifestations are documented in the German and English literature only in four cases.
Method: Case report
Results: The ophthalmological manifestations, which are described in the literature are corneal anesthesia and by this self-inflicted corneal injuries. Furthermore forms of strabismus, anisometropia and congenital lacrimal anlage ducts are described. Our patient showed anorectal atresia, testicle high conditions as well as defects of the left hand. Ophthalmological manifestations were corneal opacities and vascularisation and incomplete iris development. The view into deeper structures was not possible. An ultrasound examination showed a staphyloma posticum on both sides. In addition to that nystagmus and esotropia were noted.
Conclusions: It is assumed that the VACTERL association is based on a general disruption of differentiation of mesenchym, which occures before the 35th day of pregnancy. The ophthalmological manifestations are likely of the same reason. From the 24th day of pregnancy mesodermal cells for the formation of the corneal endothelium begin to differ