Article
Juvenile retinoschisis: a model for molecular diagnostic testing of X-linked ophthalmic disease.
Transactions of the American Ophthalmological Society - 1 Jan 1999
Sieving P A, Yashar B M, Ayyagari R
Abstract excerpt
BACKGROUND AND PURPOSE: X-linked juvenile retinoschisis (RS) provides a starting point to define clinical paradigms and understand the limitations of diagnostic molecular testing. The RS phenotype is specific, but the broad severity range is clinically confusing. Molecular diagnostic testing obviates unnecessary examinations for boys at-risk and identifies carrier females who otherwise show no clinical signs....
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