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a University
Department of Medical Genetics and Regional Genetics Service, St
Mary's Hospital, Hathersage Road, Manchester M13 0JH, UK, b Manchester Royal Eye Hospital, Oxford Road,
Manchester, UK
Correspondence to: Dr Black.
Received 14 April 1998;
Revised version accepted for publication 17 July 1998
Mutations within the RIEG1 homeobox gene on chromosome
4q25 have previously been reported in association with Rieger syndrome. We report a 3' splice site mutation within the 3rd intron of the RIEG1
gene which is associated with 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, which is characterised by ocular
anterior segment dysgenesis and central corneal opacification, is
distinct from Rieger anomaly. This is the first description of a RIEG1
mutation associated with Peters' anomaly.
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