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Disease relevance of Retinoschisis


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


Biological context of Retinoschisis


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


Analytical, diagnostic and therapeutic context of Retinoschisis


  1. Characteristics of contrast processing deficits in X-linked retinoschisis. Alexander, K.R., Barnes, C.S., Fishman, G.A. Vision Res. (2005) [Pubmed]
  2. The use of perfluorodecalin in retinal detachments with retinoschisis. Aslan, O., Batman, C., Cekic, O., Ozalp, S. Ophthalmic surgery and lasers. (1998) [Pubmed]
  3. Linkage relationships and gene order around the locus for X-linked retinoschisis. Alitalo, T., Forsius, H., Kärnä, J., Frants, R.R., Eriksson, A.W., Wood, S., Kruse, T.A., de la Chapelle, A. Am. J. Hum. Genet. (1988) [Pubmed]
  4. A retinal neuronal developmental wave of retinoschisin expression begins in ganglion cells during layer formation. Takada, Y., Fariss, R.N., Tanikawa, A., Zeng, Y., Carper, D., Bush, R., Sieving, P.A. Invest. Ophthalmol. Vis. Sci. (2004) [Pubmed]
  5. RS-1 Gene Delivery to an Adult Rs1h Knockout Mouse Model Restores ERG b-Wave with Reversal of the Electronegative Waveform of X-Linked Retinoschisis. Zeng, Y., Takada, Y., Kjellstrom, S., Hiriyanna, K., Tanikawa, A., Wawrousek, E., Smaoui, N., Caruso, R., Bush, R.A., Sieving, P.A. Invest. Ophthalmol. Vis. Sci. (2004) [Pubmed]
  6. Evidence for a new locus for X-linked retinitis pigmentosa (RP23). Hardcastle, A.J., Thiselton, D.L., Zito, I., Ebenezer, N., Mah, T.S., Gorin, M.B., Bhattacharya, S.S. Invest. Ophthalmol. Vis. Sci. (2000) [Pubmed]
  7. Postreceptoral contribution to macular dysfunction in retinitis pigmentosa. Falsini, B., Iarossi, G., Porciatti, V., Merendino, E., Fadda, A., Cermola, S., Buzzonetti, L. Invest. Ophthalmol. Vis. Sci. (1994) [Pubmed]
  8. Vascular opacification and leakage in X-linked (juvenile) retinoschisis. Green, J.L., Jampol, L.M. The British journal of ophthalmology. (1979) [Pubmed]
  9. Identification of XLRS1 gene mutation (608C > T) in a Portuguese family with juvenile retinoschisis. Teixeira, C., Rocha-Sousa, A., Trump, D., Brandão, E., Falcão-Reis, F. European journal of ophthalmology. (2005) [Pubmed]
  10. Effects of pathological mutations on the stability of a conserved amino acid triad in retinoschisin. Fraternali, F., Cavallo, L., Musco, G. FEBS Lett. (2003) [Pubmed]
  11. Phenotypic expression of juvenile X-linked retinoschisis in Swedish families with different mutations in the XLRS1 gene. Eksandh, L.C., Ponjavic, V., Ayyagari, R., Bingham, E.L., Hiriyanna, K.T., Andréasson, S., Ehinger, B., Sieving, P.A. Arch. Ophthalmol. (2000) [Pubmed]
  12. Assessment of RS1 in X-linked juvenile retinoschisis and sporadic senile retinoschisis. Gehrig, A., White, K., Lorenz, B., Andrassi, M., Clemens, S., Weber, B.H. Clin. Genet. (1999) [Pubmed]
  13. Refined genetic mapping of juvenile X-linked retinoschisis. Pawar, H., Bingham, E.L., Lunetta, K.L., Segal, M., Richards, J.E., Boehnke, M., Sieving, P.A. Hum. Hered. (1995) [Pubmed]
  14. Fundus findings and longitudinal study of visual acuity loss in patients with X-linked retinoschisis. Apushkin, M.A., Fishman, G.A., Rajagopalan, A.S. Retina (Philadelphia, Pa.) (2005) [Pubmed]
  15. Analysis of photoreceptor function and inner retinal activity in juvenile X-linked retinoschisis. Khan, N.W., Jamison, J.A., Kemp, J.A., Sieving, P.A. Vision Res. (2001) [Pubmed]
  16. Characterization of two unusual RS1 gene deletions segregating in Danish retinoschisis families. Huopaniemi, L., Tyynismaa, H., Rantala, A., Rosenberg, T., Alitalo, T. Hum. Mutat. (2000) [Pubmed]
  17. Unilateral macular retinoschisis with stellate foveal appearance in two females with myopia. Menchini, U., Brancato, R., Virgili, G., Pierro, L. Ophthalmic surgery and lasers. (2000) [Pubmed]
  18. Correlation of optical coherence tomography findings with visual acuity and macular lesions in patients with X-linked retinoschisis. Apushkin, M.A., Fishman, G.A., Janowicz, M.J. Ophthalmology (2005) [Pubmed]
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