Article
A Colombian family with X-linked juvenile retinoschisis with three affected females finding of a frameshift mutation.
Ophthalmic genetics - 1 Mar 1999
Mendoza-Londono R, Hiriyanna K T, Bingham E L, Rodriguez F, Shastry B S, Rodriguez A, Sieving P A, Tamayo M L
Abstract excerpt
X-linked retinoschisis (XLRS) is a vitreoretinal disease responsible for most cases of juvenile macular degeneration in males. Retinoschisis carrier females generally manifest no pathological symptoms. However, a large affected family from Colombia presented three affected females with typical RS phenotype similar to their 27 affected male relatives. Fundus examination as well as electroretinograms (ERG) indicate...
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