Disease relevance of Retinoschisis

• Contrast sensitivity and contrast discrimination were evaluated in six males with X-linked retinoschisis (XLRS), a form of early-onset macular degeneration, using testing paradigms designed to favor either the magnocellular (MC) or parvocellular (PC) pathway [1].
• BACKGROUND AND OBJECTIVE: To evaluate the effect of perfluorodecalin on the repair of retinal detachments with retinoschisis [2].

High impact information on Retinoschisis

• X-linked recessive retinoschisis (RS) is a hereditary disorder with variable clinical features [3].
• PURPOSE: Mutations in the retinoschisin gene, RS-1, cause juvenile X-linked retinoschisis (XLRS), a dystrophy characterized by delamination of the inner retinal layers, leading to visual impairment [4].
• METHODS: An X-linked retinoschisis mouse (Rs1h-KO) model was created by substituting a neomycin resistance cassette for exon 1 and 1.6 kb of intron 1 of Rs1h, the murine orthologue of the human RS-1 gene [5].
• No sequence alteration was identified indicating that mutations in the coding region of the gene responsible for retinoschisis do not cause RP23 [6].
• Normal subjects (n = 17), as well as patients with typical retinitis pigmentosa (n = 22), cone dystrophy (CD, n = 7) and X-linked congenital retinoschisis (XLR, n = 5) served as subjects [7].

Chemical compound and disease context of Retinoschisis

• Scattered intraretinal fluorescein leakage was present even in clinically nonschitic retina, which suggests that the vascular changes may precede the retinoschisis [8].
• PATIENTS AND METHODS: Twenty-two eyes of 20 patients with degenerative and X-linked retinoschisis underwent pars plana vitrectomy, perfluorodecalin injection, internal fluid drainage, and fluid-air exchange [2].
• A retinoschisis gene (XLRS1) mutation with transition of cytosine by thymine at position 608 (608C > T) had been identified in both [9].

Biological context of Retinoschisis

• The model allows for a mapping of the pathological retinoschisis missense mutations and a rationale for the structural effects of an evolutionary conserved surface exposed triad (W122-R200-W163) [10].
• CLINICAL RELEVANCE: This study describes the wide variability in the phenotype in patients with juvenile retinoschisis and different mutations in the XLRS1 gene [11].
• We did not find mutations in any of the senile retinoschisis patients and conclude that senile retinoschisis is not the result of germline mutations in the RS1 gene [12].
• Juvenile X-linked retinoschisis (RS) is an eye disease that causes acuity reduction and peripheral visual field loss typically beginning early in life [13].
• PURPOSE: To determine the presence of fundus findings and natural course of visual acuity change in patients with juvenile X-linked retinoschisis (XLRS) [14].

Anatomical context of Retinoschisis

• Thirteen retinoschisis males with genotyped XLRS1 gene mutations were examined by electroretinogram (ERG) techniques to determine photoreceptor involvement and ON-pathway and OFF-pathway sites of dysfunction [15].

Gene context of Retinoschisis

• This new locus (RP23) encompasses the retinoschisis disease gene; therefore, XLRS1 was screened for a mutation [6].
• Over 100 distinct retinoschisis gene (RS1) mutations, of which approximately 10% are single exon deletions, have been described to date [16].
• Despite these two unique deletions, which either lead to severely defective transcription or total absence of the retinoschisin and PPEF-1 protein, all the patients have a typical retinoschisis phenotype [16].
• Unilateral macular retinoschisis with stellate foveal appearance in two females with myopia [17].
• Macular retinoschisis with stellate foveal appearance may rarely be associated with pathologic myopia [17].

Analytical, diagnostic and therapeutic context of Retinoschisis

• PURPOSE: To evaluate and correlate findings obtained by optical coherence tomography (OCT) imaging with visual acuity (VA) and macular lesions in patients with X-linked retinoschisis (XLRS) [18].

References