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  • Title: Primary vitreoretinal dysplasia resembling Norrie's disease in a female: association with X autosome chromosomal translocation.
    Author: Ohba N, Yamashita T.
    Journal: Br J Ophthalmol; 1986 Jan; 70(1):64-71. PubMed ID: 3947601.
    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.
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