Axenfeld-Rieger syndrome is a genetically heterogeneous, autosomal dominant disorder characterized by anomalies of the anterior segment of the eye, face, teeth, and umbilicus. Many other extraocular findings, including congenital heart defects, have been reported in association with this syndrome. It has been suggested by some investigators that the coexistence of Axenfeld-Rieger syndrome and congenital heart defects is not a chance event but it represents a distinct entity. We report a family in which four members in three generations have typical ocular features of Axenfeld-Rieger syndrome. Two of them, who are siblings, also have congenital heart defects. The congenital heart defect was bicuspid aortic valve anomaly with severe stenosis and mild regurgitation in one sibling and ostium secundum atrial septal defect in the other. To our knowledge, the combination of congenital heart defects with Axenfeld-Rieger syndrome in siblings has not been reported previously. Our observation further strengthens the notion that Axenfeld-Rieger syndrome associated with congenital heart defects is not a chance event.

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ÖzetOn dokuz yafl›nda primigravid hastan›n 37. gestasyon haftas›nda konvulsiyonlar›, frontal bafl a¤r›s› ortaya ç›kt› ve hastada eklampsi düflünülerek sezaryen uyguland›. Postoperatif 10. günde hastan›n her iki gözünde görme kayb› ortaya ç›kt›. Sa¤ gözde en iyi düzeltilmifl görme keskinli¤i 3/10, sol gözde ise 2 metreden parmak sayar düzeydeydi. Bilateral ön segment muayenesi do¤al olan hastan›n her iki fundus muayenesinde maküler hemoraji ve eksudalar izlendi. Yap›lan laboratuar tetkiklerinde HELLP sendromu ile uyumlu olarak karaci¤er enzimlerinde art›fl, trombositopeni tespit edildi. Takiplerde her iki maküladaki hemoraji geriledi ve hastan›n görme düzeyi artt›. HELLP sendromunda çeflitli oftalmolojik komplikasyonlar›n yan› s›ra maküler hemoraji geliflimi izlenebilmektedir. ( SummaryA 19-year-old primigravida complained of frontal headache and convulsion at 37 weeks of gestation. She was suspected of having eclampsia and accordingly, cesarean section was performed. Bilateral loss of vision developed on postoperative day 10. The best corrected visual acuity in the right eye was 3/10 and in the left eye was counting fingers at 2 meters. Bilateral anterior segment examination was normal. Fundus examination demonstrated bilateral macular hemorrhage and exudates. Laboratory studies revealed elevated levels of liver enzymes and thrombocytopenia, findings consistent with HELLP syndrome. Besides various ophthalmologic complications, HELLP syndrome may cause development of macular hemorrhage. (Turk J Ophthalmol 2010; 40: 363-5)