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Congenital Micro-phthalmos with Keratoglobus and Spontaneous Perforation

1Kootz D., 2Müller-Molaian I., 1Ruprecht K. W., 1Käsmann-Kellner B.,
1Universitätskliniken des Saarlandes, Augenklinik und Poliklinik (Homburg/Saar)
2Universitätskliniken des Saarlandes, Institut für Pathologie (Homburg/Saar)

Background: Congenital microphthalmos can be associated with several iridocorneal syndromes. The following case presents the development and the differential diagnosis of a unilateral microphthalmos which occured with congenital keratoglobus.
Patient Presentation: The abnormality was dignosed directly after birth. The child was presented to us on its fourth day of life. Exploring the history, an uneventfull pregnancy and amniocentesis were reported. The otherwise healthy child additionally showed a four-finger-furrow and a little ear tag.
Course of Disease: The first examination of the newborn showed a marked microphthalmos, a cupola- like protrusion of the entire thinned out cornea and a non-existent anterior chamber with circular adhesions between the iris and the endothelial tissue. The lens also touched the endothelium. By the help of sonography the retina proved to be attached. Following therapeutic considerations the bulb was preserved as the cornea seemed to be stabilized due to the presence of beginning vascularisation. Six weeks later the cornea ruptured and vitreous body and retina prolapsed. This lead to enucleation. Histological examination could confirm the clinical diagnosis of an atypical Peters`anomaly with microphthalmos, no Bowman`s membrane but a pannus of connectiv tissue instead, anterior synechia without Descemet`s membrane and endothelium. Differential diagnosis ( Axenfeld. Rieger syndrome) are to be commented on.
Conclusions: The presented case is most likely to be a fulminant process of an atypical unilateral Peters` anomaly with a spontaneous rupture of the globic and thinned cornea. A glaucoma is not associated. The partial abnormality of the external ear is also compatbile with Peters` anomaly.