A mutation in the RIEG1 gene associated with Peters' anomaly

Mutations within the RIEG1 homeobox gene on chromosome 4q25 have previously been reported in association with Rieger syndrome. We report a 3' splice s ite mutation within the 3rd intron of the RIEG1 gene which is associated wi th unilateral Peters' anomaly. The mutation is a single base substition of A to T at the invariant -2 site of the 3' splice site. Peters' anomaly, whi ch is characterised by ocular anterior segment dysgenesis and central corne al opacification, is distinct from Rieger anomaly. This is the first descri ption of a RIEG1 mutation associated with Peters' anomaly.