Abstract
X-linked retinoschisis (RS) is an inherited recessive macular degeneration that affects between 1 in 5000 and 1 in 25,000 males early in life (George et al., 1995; Sieving, 1998; Tantri et al., 2004). It is characterized by a loss in central vision, splitting of the retina with the appearance of spoke-like cystic cavities radiating from the parafoveal region of the retina, a loss in the b-wave of the electroretinogram (ERG), and progressive atrophy of the macula. In about 50% of the cases, bilateral schisis is observed in the peripheral retina with some loss in peripheral vision. During the course of the disease, complications can arise which include retinal detachment, vitreal hemorrhage and choroidal sclerosis.
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References
Acland, G.M., Aguirre, G.D., Ray, J., Zhang, Q., Aleman, T.S., Cideciyan, A.V., Pearce-Kelling, S.E., Anand, V., Zeng, Y., Maguire, A.M., Jacobson, S.G., Hauswirth, W.W. and Bennett, J. (2001) Gene therapy restores vision in a canine model of childhood blindness. Nat. Genet., 28:92–95.
Baumgartner, S., Hofmann, K., Chiquet-Ehrismann, R. and Bucher, P. (1998) The discoidin domain family revisited: new members from prokaryotes and a homology-based fold prediction. Protein Sci., 7:1626–1631.
Consortium, R. (1998) Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis. Hum. Mol. Genet., 7:1185–1192. (http://www.dmd.nl/rs)
Flannery, J.G., Zolotukhin, S., Vaquero, M.I., LaVail, M.M., Muzyczka, N. and Hauswirth, W.W. (1997) Efficient photoreceptor-targeted gene expression in vivo by recombinant adeno-associated virus. Proc. Natl. Acad. Sci. U.S.A., 94:6916–6921.
Fraternali, F., Cavallo, L. and Musco, G. (2003) Effects of pathological mutations on the stability of a conserved amino acid triad in retinoschisin. FEBS Lett., 544:21–26.
George, N.D., Yates, J.R. and Moore, A.T. (1995) X linked retinoschisis. Br. J. Ophthalmol., 79:697–702.
Molday, L.L., Hicks, D., Sauer, C.G., Weber, B.H. and Molday, R.S. (2001) Expression of X-linked retinoschisis protein RS1 in photoreceptor and bipolar cells. Invest. Ophthalmol. Vis. Sci., 42:816–825.
Pratt, K.P., Shen, B.W., Takeshima, K., Davie, E.W., Fujikawa, K. and Stoddard, B.L. (1999) Structure of the C2 domain of human factor VIII at 1.5 A resolution. Nature, 402:439–442.
Reid, S.N., Akhmedov, N.B., Piriev, N.I., Kozak, C.A., Danciger, M. and Farber, D.B. (1999) The mouse X-linked juvenile retinoschisis cDNA: expression in photoreceptors. Gene, 227:257–266.
Sauer, C.G., Gehrig, A., Warneke-Wittstock, R., Marquardt, A., Ewing, C.C., Gibson, A., Lorenz, B., Jurklies, B. and Weber, B.H. (1997) Positional cloning of the gene associated with X-linked juvenile retinoschisis. Nat. Genet., 17:164–170.
Sieving, P.A. (1998) Juvenile Retinoschisis. In Traboulsi, E.I. (ed.), Genetic Diseases of the Eye. Oxford University Press, New York.
Tantri, A., Vrabec, T.R., Cu-Unjieng, A., Frost, A., Annesley, W.H., Jr. and Donoso, L.A. (2004) X-linked retinoschisis: a clinical and molecular genetic review. Surv. Ophthalmol., 49:214–230.
Vogel, W. (1999) Discoidin domain receptors: structural relations and functional implications. FASEB J., 13Suppl:S77–S82.
Wang, T., Waters, C.T., Rothman, A.M., Jakins, T.J., Romisch, K. and Trump, D. (2002) Intracellular retention of mutant retinoschisin is the pathological mechanism underlying X-linked retinoschisis. Hum. Mol. Genet., 11:3097–3105.
Weber, B.H., Schrewe, H., Molday, L.L., Gehrig, A., White, K.L., Seeliger, M.W., Jaissle, G.B., Friedburg, C., Tamm, E. and Molday, R.S. (2002) Inactivation of the murine X-linked juvenile retinoschisis gene, Rs1h, suggests a role of retinoschisin in retinal cell layer organization and synaptic structure. Proc. Natl. Acad. Sci. U.S.A., 99:6222–6227.
Wu, W.W.H. and Molday, R.S. (2003) Defective discoidin domain structure, subunit assembly, and endoplasmic reticulum processing of retinoschisin are primary mechanisms responsible for X-linked retinoschisis. J. Biol. Chem., 278:28139–28146.
Zeng, Y., Takada, Y., Kjellstrom, S., Hiriyanna, K., Tanikawa, A., Wawrousek, E., Smaoui, N., Caruso, R., Bush, R.A. and Sieving, P.A. (2004) 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. Invest. Ophthalmol. Vis. Sci., 45:3279–3285.
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Molday, L.L. et al. (2006). Disease Mechanisms and Gene Therapy in A Mouse Model for X-Linked Retinoschisis. In: Hollyfield, J.G., Anderson, R.E., LaVail, M.M. (eds) Retinal Degenerative Diseases. Advances in Experimental Medicine and Biology, vol 572. Springer, Boston, MA. https://doi.org/10.1007/0-387-32442-9_39
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DOI: https://doi.org/10.1007/0-387-32442-9_39
Publisher Name: Springer, Boston, MA
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