A novel gene mutation in a family with X-linked retinoschisis.
Kao-hsiung, Taiwan. In J Formos Med Assoc, 13 Mar 2014
BACKGROUND/PURPOSE: To describe the clinical characteristics of a Taiwanese family with X-linked retinoschisis (XLRS) and to investigate the molecular genetics of a novel mutation in the retinoschisin 1 (RS1) gene.
Macular hole in juvenile X-linked retinoschisis.
Riyadh, Saudi Arabia. In Saudi J Ophthalmol, Oct 2013
This report highlights the importance of investigating the presence of a macular hole in a young patient and illustrates the clinical and SD-OCT clues beyond the foveal center which led to the correct diagnosis of X-linked juvenile retinoschisis.
[Retinal detachment in children: differential diagnosis and current therapy].
Leipzig, Germany. In Klin Monbl Augenheilkd, 2008
Associated conditions include hereditary vitreoretinal disorders (e. g., morbus Stickler, X-linked juvenile retinoschisis, Marfan syndrome, familiär exsudative vitreoretinopathy), malformations (e. g., persistent hyperplastic primary vitreous, coloboma) and retinal detachment following cataract surgery.
Duplication and amplification of toxin genes in Vibrio cholerae.
In Cell, 1983
The variation in size among these large tandem duplications was due to a difference in the copy number of a smaller, 2.7 kb, tandemly repeated sequence (RS1) that is located at the novel joint of these duplications, as well as upstream and downstream of ctx.