Primary vitreoretinal dysplasia resembling Norrie's disease in a female: association with X autosome chromosomal translocation

Abstract

A female infant with the typical clinical and histopathological features of vitreoretinal dysplasia is described. She had an apparently balanced reciprocal chromosomal translocation 46XX,t(X;10) with the X chromosome breakpoint being on the short arm. Since the parents' karyotypes were normal, it is most plausible that a de novo chromosomal translocation disrupted the vitreoretinal dysplasia gene itself. The severe clinical symptoms of this heterozygous female patient were explained by non-random X inactivation. She may have had Norrie's disease, an X linked recessive disorder due to an X autosome translocation.