Rieger's eye anomaly and persistent hyperplastic primary vitreous

Abstract

The authors present a Turkish family (two generations, five affected persons) with symptoms of Rieger's eye anomaly as well as Persistent Hyperplastic Primary Vitreous (PHPV). Although Rieger's anomaly has been described in combination with other conditions, according to their knowledge a familial combination of Rieger's anomaly and PHPV has never been described before. Only once an isolated case with the combination of an anterior chamber cleavage malformation and bilateral PHPV has been described. The authors suggest two possible explanations for the coexistence of PHPV and Rieger's eye anomaly. It is feasible that we are dealing with symptoms until yet not diagnosed within the anomaly of Rieger. Another possibility is that there is a linkage between the genes for PHPV and Rieger's anomaly and as a consequence they are inherited together in this family.