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Congenital X-Linked Retinoschisis and Retinal Detachment

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Pediatric Vitreoretinal Surgery

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Abstract

Congenital X-linked retinoschisis is a common degenerative retinopathy characterized by bilateral mild to severe visual loss in males with splitting of retinal layers. Onset of the disease is usually during the first decade of life. The most common type is the complex type, and it is also the type in which complications are most common. Visual acuity remains stable in most of the patients however it may deteriorate during the first and second decades of life because of the sight-threatening complications like vitreous hemorrhage, rhegmatogenous retinal detachment, tractional retinal detachment, bullous retinoschisis involving the macula in some of the cases. These complications should be managed appropriately with advanced vitreoretinal surgical techniques. This chapter aimed to cover all aspects of the disease and provide information on the management of complications requiring surgery.

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References

  1. Molday RS, Kellner U, Weber BH. X-linked juvenile retinoschisis: clinical diagnosis, genetic analysis, and molecular mechanisms. Prog Retin Eye Res. 2012;31(3):195–212.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  2. Haas J. Ueber das zusammenvorkommen von Veranderungen der retina und choroidea. Arch Augenheilkd. 1898;37:343–8.

    Google Scholar 

  3. Rao P, Dedania VS, Drenser KA. Congenital X-linked retinoschisis: an updated clinical review. Asia-Pacific J Ophthalmol. 2018;7(3):169–75.

    CAS  Google Scholar 

  4. Jager G. A hereditary retinal disease. Trans Ophthalmol Soc UK. 1953;73:617–9.

    Google Scholar 

  5. George N, Yates J, Moore A. X linked retinoschisis. Br J Ophthalmol. 1995;79(7):697.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  6. Kim LS, Seiple W, Fishman GA, Szlyk JP. Multifocal ERG findings in carriers of X-linked retinoschisis. Documenta Ophthalmologica Adv Ophthalmol. 2007;114(1):21–6.

    Article  Google Scholar 

  7. Booth AP, Trump D, George ND. A manifesting female heterozygote in x-linked retinoschisis: clinical and genetic study. Invest Ophthalmol Vis Sci. 2003;44(13):1484.

    Google Scholar 

  8. Deutman AF, Pinckers AJ, Aan de Kerk AL. Dominantly inherited cystoid macular edema. Amer J Ophthalmol. 1976;82(4):540–8.

    Google Scholar 

  9. Sikkink SK, Biswas S, Parry NR, Stanga PE, Trump D. X-linked retinoschisis: an update. J Med Genet. 2007;44(4):225–32.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  10. Meier P, Wiedemann P. Surgery for pediatric vitreoretinal disorders. In: Schachat AP, editor. Ryan’s retina. Sixth edition. ed. Edinburgh ; New York: Elsevier; 2018. p. 2170–93.

    Google Scholar 

  11. Sauer CG, Gehrig A, Warneke-Wittstock R, Marquardt A, Ewing CC, Gibson A, et al. Positional cloning of the gene associated with X-linked juvenile retinoschisis. Nat Genet. 1997;17(2):164–70.

    Article  CAS  PubMed  Google Scholar 

  12. Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis. The Retinoschisis Consortium. Human molecular genetics. 1998;7(7):1185–92.

    Google Scholar 

  13. Wang T, Zhou A, Waters CT, O’Connor E, Read RJ, Trump D. Molecular pathology of X linked retinoschisis: mutations interfere with retinoschisin secretion and oligomerisation. Br J Ophthalmol. 2006;90(1):81–6.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  14. Wu WW, Wong JP, Kast J, Molday RS. RS1, a discoidin domain-containing retinal cell adhesion protein associated with X-linked retinoschisis, exists as a novel disulfide-linked octamer. J Biol Chem. 2005;280(11):10721–30.

    Article  CAS  PubMed  Google Scholar 

  15. Wu WW, Molday RS. Defective discoidin domain structure, subunit assembly, and endoplasmic reticulum processing of retinoschisin are primary mechanisms responsible for X-linked retinoschisis. J Biol Chem. 2003;278(30):28139–46.

    Article  CAS  PubMed  Google Scholar 

  16. Grayson C, Reid SN, Ellis JA, Rutherford A, Sowden JC, Yates JR, et al. Retinoschisin, the X-linked retinoschisis protein, is a secreted photoreceptor protein, and is expressed and released by Weri-Rb1 cells. Hum Mol Genet. 2000;9(12):1873–9.

    Article  CAS  PubMed  Google Scholar 

  17. Rahman N, Georgiou M, Khan KN, Michaelides M. Macular dystrophies: clinical and imaging features, molecular genetics and therapeutic options. Br J Ophthalmol. 2020;104(4):451–60.

    Article  PubMed  Google Scholar 

  18. Chen J, Xu K, Zhang X, Pan Z, Dong B, Li Y. Novel mutations of the RS1 gene in a cohort of Chinese families with X-linked retinoschisis. Mol Vis. 2014;20:132–9.

    PubMed  PubMed Central  Google Scholar 

  19. Eksandh LC, Ponjavic V, Ayyagari R, Bingham EL, Hiriyanna KT, Andréasson S, et al. Phenotypic expression of juvenile X-linked retinoschisis in Swedish families with different mutations in the XLRS1 gene. Archives of ophthalmology (Chicago, Ill : 1960). 2000;118(8):1098–104.

    Google Scholar 

  20. Shinoda K, Ishida S, Oguchi Y, Mashima Y. Clinical characteristics of 14 japanese patients with X-linked juvenile retinoschisis associated with XLRS1 mutation. Ophthalmic Genet. 2000;21(3):171–80.

    Article  CAS  PubMed  Google Scholar 

  21. Simonelli F, Cennamo G, Ziviello C, Testa F, de Crecchio G, Nesti A, et al. Clinical features of X linked juvenile retinoschisis associated with new mutations in the XLRS1 gene in Italian families. Br J Ophthalmol. 2003;87(9):1130–4.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  22. Pimenides D, George ND, Yates JR, Bradshaw K, Roberts SA, Moore AT, et al. X-linked retinoschisis: clinical phenotype and RS1 genotype in 86 UK patients. J Med Genet. 2005;42(6): e35.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  23. Joshi MM, Drenser K, Hartzer M, Dailey W, Antonio Capone J, Trese MT. Intraschisis cavity fluid composition in congenital X-linked retinoschisis. Retina. 2006;26(7):S57–S60.

    Google Scholar 

  24. Tantri A, Vrabec TR, Cu-Unjieng A, Frost A, Annesley WH Jr, Donoso LA. X-linked retinoschisis: a clinical and molecular genetic review. Surv Ophthalmol. 2004;49(2):214–30.

    Article  PubMed  Google Scholar 

  25. Doğuizi S, Şekeroğlu MA, Çolak S, Anayol MA, Yılmazbaş P. Assessment of spectral-domain optical coherence tomography findings in three cases of X-linked Juvenile Retinoschisis in the same family. Turkish J Ophthalmol. 2017;47(5):302–5.

    Article  Google Scholar 

  26. George NDL, Yates JRW, Moore AT. Clinical features in Affected males With X-linked Retinoschisis. Arch Ophthalmol. 1996;114(3):274–80.

    Article  CAS  PubMed  Google Scholar 

  27. Kousal B, Hlavata L, Vlaskova H, Dvorakova L, Brichova M, Dubska Z, et al. Clinical and genetic study of X-linked Juvenile Retinoschisis in the Czech population. Genes. 2021;12(11).

    Google Scholar 

  28. Eksandh LC, Ponjavic V, Ayyagari R, Bingham EL, Hiriyanna KT, Andréasson S, et al. Phenotypic expression of juvenile x-linked Retinoschisis in Swedish families with different mutations in the XLRS1 gene. Arch Ophthalmol. 2000;118(8):1098–104.

    Article  CAS  PubMed  Google Scholar 

  29. Fahim AT, Ali N, Blachley T, Michaelides M. Peripheral fundus findings in X-linked retinoschisis. Br J Ophthalmol. 2017;101(11):1555–9.

    Article  PubMed  Google Scholar 

  30. Juvenile X-Linked Retinoschisis. In: Levin AV, Zanolli M, Capasso JE, editors. Wills Eye Handbook of Ocular Genetics. New York: Thieme Medical Publishers; 2018. p. 241–7.

    Google Scholar 

  31. George ND, Yates JR, Bradshaw K, Moore AT. Infantile presentation of X linked retinoschisis. Br J Ophthalmol. 1995;79(7):653–7.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  32. Mosin IM, Moshetova LK, Mishustin VV, Letneva IA. Bullous form of X-linked congenital retinoschisis in infants. Vestn oftalmol. 2001;117(1):40–3.

    CAS  PubMed  Google Scholar 

  33. Hinds A-M, Fahim A, Moore AT, Wong SC, Michaelides M. Bullous X linked retinoschisis: clinical features and prognosis. Br J Ophthalmol. 2018;102(5):622–4.

    Article  PubMed  Google Scholar 

  34. Savoie BT, Ferrone PJ. Complicated congenital retinoschisis. Retinal Cases Brief Reports. 2017;11(Suppl 1):S202–10.

    Article  PubMed  Google Scholar 

  35. Ando A, Takahashi K, Sho K, Matsushima M, Okamura A, Uyama M. Histopathological findings of X-linked retinoschisis with neovascular glaucoma. Graefe’s archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie. 2000;238(1):1–7.

    Google Scholar 

  36. Brockhurst RJ. Photocoagulation in congenital retinoschisis. Arch Ophthalmol. 1970;84(2):158–65.

    Article  CAS  PubMed  Google Scholar 

  37. Ewing C. Juvenile hereditary retinoschisis. Trans Ophthalmol Soc UK. 1970;89:29–39.

    CAS  PubMed  Google Scholar 

  38. Kellner U, Brümmer S, Foerster MH, Wessing A. X-linked congenital retinoschisis. Graefes Arch Clin Exp Ophthalmol. 1990;228(5):432–7.

    Article  CAS  PubMed  Google Scholar 

  39. Kim SY, Ko HS, Yu YS, Hwang JM, Lee JJ, Kim SY, et al. Molecular genetic characteristics of X-linked retinoschisis in Koreans. Mol Vis. 2009;15:833–43.

    CAS  PubMed  PubMed Central  Google Scholar 

  40. Murro V, Caputo R, Bacci GM, Sodi A, Mucciolo DP, Bargiacchi S, et al. Case report of an atypical early onset X-linked retinoschisis in monozygotic twins. BMC Ophthalmol. 2017;17(1):19.

    Article  PubMed  PubMed Central  Google Scholar 

  41. Ibad S, Wilkins CS, Pinhas A, Sun V, Wieder MS, Deobhakta A. Acute vitreous and intraretinal hemorrhage with multifocal subretinal fluid in Juvenile X-Linked Retinoschisis. Case Reports Ophthalmol Med. 2020;2020:6638553.

    Article  Google Scholar 

  42. Conway BP, Welch RB. X-chromosone-linked juvenile retinoschisis with hemorrhagic retinal cyst. Am J Ophthalmol. 1977;83(6):853–5.

    Article  CAS  PubMed  Google Scholar 

  43. Fan KC, McAllister MA, Yannuzzi NA, Patel NA, Prakhunhungsit S, Negron CI, et al. X-linked Retinoschisis and a coats-like response in the setting of retinopathy of prematurity. J Vitreoretinal Diseases. 2020;4(6):525–9.

    Article  Google Scholar 

  44. Hahn LC, van Schooneveld MJ, Wesseling NL, Florijn RJ, ten Brink JB, Lissenberg-Witte BI, et al. X-linked Retinoschisis: novel clinical observations and genetic spectrum in 340 patients. Ophthalmology. 2022;129(2):191–202.

    Article  PubMed  Google Scholar 

  45. Keunen JE, Hoppenbrouwers RW. A case of sex-linked juvenile retinoschisis with peripheral vascular anomalies. Ophthalmologica Journal international d’ophtalmologie International journal of ophthalmology Zeitschrift fur Augenheilkunde. 1985;191(3):146–9.

    Article  CAS  PubMed  Google Scholar 

  46. Shukla D, Rajendran A, Gibbs D, Suganthalakshmi B, Zhang K, Sundaresan P. Unusual manifestations of x-linked retinoschisis: clinical profile and diagnostic evaluation. Am J Ophthalmol. 2007;144(3):419–23.

    Article  CAS  PubMed  Google Scholar 

  47. Georgiou M, Finocchio L, Fujinami K, Fujinami-Yokokawa Y, Virgili G, Mahroo OA, et al. X-linked Retinoschisis: deep Phenotyping and genetic characterization. Ophthalmology. 2021.

    Google Scholar 

  48. Xu F, Sui R, Dong F. Thirty-two years follow-up of X-linked juvenile retinoschisis in a Chinese patient with RS1 mutation. Ophthalmic Genet. 2012;33(2):77–82.

    Article  PubMed  Google Scholar 

  49. Ip M, Garza-Karren C, Duker JS, Reichel E, Swartz JC, Amirikia A, et al. Differentiation of degenerative retinoschisis from retinal detachment using optical coherence tomography. Ophthalmology. 1999;106(3):600–5.

    Article  CAS  PubMed  Google Scholar 

  50. Gao FJ, Dong JH, Wang DD, Chen F, Hu FY, Chang Q, et al. Comprehensive analysis of genetic and clinical characteristics of 30 patients with X-linked juvenile retinoschisis in China. Acta Ophthalmol. 2021;99(4):e470–9.

    Article  CAS  PubMed  Google Scholar 

  51. Prenner JL, Capone A Jr, Ciaccia S, Takada Y, Sieving PA, Trese MT. Congenital X-linked retinoschisis classification system. Retina. 2006;26(7 Suppl):S61–4.

    Article  PubMed  Google Scholar 

  52. Wood EH, Lertjirachai I, Ghiam BK, Koulisis N, Moysidis SN, Dirani A, et al. The natural history of congenital X-Linked Retinoschisis and conversion between phenotypes over time. Ophthalmology Retina. 2019;3(1):77–82.

    Article  PubMed  Google Scholar 

  53. Ling KP, Mangalesh S, Tran-Viet D, Gunther R, Toth CA, Vajzovic L. Handheld spectral domain optical coherence tomography findings of x-linked retinoschisis in early childhood. Retina. 2020;40(10):1996–2003.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  54. Yu J, Ni Y, Keane PA, Jiang C, Wang W, Xu G. Foveomacular schisis in juvenile X-linked retinoschisis: an optical coherence tomography study. Am J Ophthalmol. 2010;149(6):973-8.e2.

    Article  PubMed  Google Scholar 

  55. Han IC, Whitmore SS, Critser DB, Lee SY, DeLuca AP, Daggett HT, et al. Wide-field swept-source OCT and Angiography in X-linked Retinoschisis. Ophthalmology Retina. 2019;3(2):178–85.

    Article  PubMed  Google Scholar 

  56. Yang HS, Lee JB, Yoon YH, Lee JY. Correlation between spectral-domain OCT findings and visual acuity in X-linked retinoschisis. Invest Ophthalmol Vis Sci. 2014;55(5):3029–36.

    Article  PubMed  Google Scholar 

  57. Hu QR, Huang LZ, Chen XL, Xia HK, Li TQ, Li XX. X-Linked Retinoschisis in Juveniles: follow-up by optical coherence tomography. Biomed Res Int. 2017;2017:1704623.

    Article  PubMed  PubMed Central  Google Scholar 

  58. Padrón-Pérez N, Català-Mora J, Díaz J, Arias L, Prat J, Caminal JM. Swept-source and optical coherence tomography angiography in patients with X-linked retinoschisis. Eye (Lond). 2018;32(4):707–15.

    Article  PubMed  Google Scholar 

  59. Andreoli MT, Lim JI. Optical coherence tomography retinal thickness and volume measurements in X-linked retinoschisis. Am J Ophthalmol. 2014;158(3):567-73.e2.

    Article  PubMed  Google Scholar 

  60. Tsang SH, Vaclavik V, Bird AC, Robson AG, Holder GE. Novel phenotypic and genotypic findings in X-linked retinoschisis. Archives of ophthalmology (Chicago, Ill: 1960). 2007;125(2):259–67.

    Google Scholar 

  61. Souied EH, Goritsa A, Querques G, Coscas G, Soubrane G. Indocyanine green angiography of juvenile X-linked retinoschisis. Am J Ophthalmol. 2005;140(3):558–61.

    Article  CAS  PubMed  Google Scholar 

  62. Rao P, Robinson J, Yonekawa Y, Thomas BJ, Drenser KA, Trese MT, et al. Wide-field imaging of nonexudative and exudative congenital x-linked retinoschisis. Retina. 2016;36(6):1093–100.

    Article  PubMed  Google Scholar 

  63. Green JL, Jampol LM. Vascular opacification and leakage in X-linked (juvenile) retinoschisis. Br J Ophthalmol. 1979;63(5):368–73.

    Article  PubMed  PubMed Central  Google Scholar 

  64. Fong DS, Frederick AR, Blumenkranz MS, Walton DS. Exudative retinal detachment in X-linked retinoschisis. SLACK Incorporated Thorofare, NJ; 1998. p. 332–5.

    Google Scholar 

  65. Strupaitė R, Ambrozaitytė L, Cimbalistienė L, Ašoklis R, Utkus A. X-linked juvenile retinoschisis: phenotypic and genetic characterization. Int J Ophthalmol. 2018;11(11):1875–8.

    PubMed  PubMed Central  Google Scholar 

  66. Neriyanuri S, Dhandayuthapani S, Arunachalam JP, Raman R. Phenotypic characterization of X-linked retinoschisis: Clinical, electroretinography, and optical coherence tomography variables. Indian J Ophthalmol. 2016;64(7):513–7.

    Article  PubMed  PubMed Central  Google Scholar 

  67. Ambrosio L, Hansen RM, Kimia R, Fulton AB. Retinal Function in X-Linked Juvenile Retinoschisis. Invest Ophthalmol Vis Sci. 2019;60(14):4872–81.

    Article  CAS  PubMed  Google Scholar 

  68. Khan NW, Jamison JA, Kemp JA, Sieving PA. Analysis of photoreceptor function and inner retinal activity in juvenile X-linked retinoschisis. Vision Res. 2001;41(28):3931–42.

    Article  CAS  PubMed  Google Scholar 

  69. Bowles K, Cukras C, Turriff A, Sergeev Y, Vitale S, Bush RA, et al. X-Linked Retinoschisis: RS1 mutation severity and age affect the ERG Phenotype in a Cohort of 68 affected male subjects. Invest Ophthalmol Vis Sci. 2011;52(12):9250–6.

    Article  PubMed  PubMed Central  Google Scholar 

  70. Peachey NS, Fishman GA, Derlacki DJ, Brigell MG. Psychophysical and electroretinographic findings in X-linked juvenile retinoschisis. Archives of ophthalmology (Chicago, Ill: 1960). 1987;105(4):513–6.

    Google Scholar 

  71. McAnany JJ, Park JC, Fishman GA, Collison FT. Full-field electroretinography, Pupillometry, and luminance thresholds in X-linked Retinoschisis. Invest Ophthalmol Vis Sci. 2020;61(6):53.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  72. Vincent A, Robson AG, Neveu MM, Wright GA, Moore AT, Webster AR, et al. A phenotype-genotype correlation study of X-linked retinoschisis. Ophthalmology. 2013;120(7):1454–64.

    Article  PubMed  Google Scholar 

  73. PA S, IM M, SH. Congenital Retinoschisis. In: MP A, HH A, RA P, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle2003.

    Google Scholar 

  74. Stickler GB, Belau PG, Farrell FJ, Jones JD, Pugh DG, Steinberg AG, et al. Hereditary progressive arthro-ophthalmopathy Mayo Clinic Proc. 1965;40:433–55.

    CAS  Google Scholar 

  75. Pennesi ME, Birch DG, Jayasundera KT, Parker M, Tan O, Gurses-Ozden R, et al. Prospective evaluation of Patients With X-linked Retinoschisis during 18 months. Invest Ophthalmol Vis Sci. 2018;59(15):5941–56.

    CAS  PubMed  PubMed Central  Google Scholar 

  76. Genead MA, Fishman GA, Walia S. Efficacy of sustained topical dorzolamide therapy for cystic macular lesions in patients with X-linked Retinoschisis. Arch Ophthalmol. 2010;128(2):190–7.

    Article  CAS  PubMed  Google Scholar 

  77. Coussa RG, Kapusta MA. Treatment of cystic cavities in X-linked juvenile retinoschisis: The first sequential cross-over treatment regimen with dorzolamide. Amer J Ophthalmol Case Reports. 2017;8:1–3.

    Article  Google Scholar 

  78. Thangavel R, Surve A, Azad S, Kumar V. Dramatic response to topical dorzolamide in X-linked retinoschisis. Indian J Ophthalmol. 2020;68(7):1466–7.

    Article  PubMed  PubMed Central  Google Scholar 

  79. Andreuzzi P, Fishman GA, Anderson RJ. Use of a carbonic anhydrase inhibitor in x-linked retinoschisis: effect on cystic-appearing macular lesions and visual acuity. Retina. 2017;37(8):1555–61.

    Article  CAS  PubMed  Google Scholar 

  80. Apushkin MA, Fishman GA. Use of dorzolamide for patients with X-linked retinoschisis. Retina. 2006;26(7):741–5.

    Article  PubMed  Google Scholar 

  81. Menke B, Walters A, Payne JF. Paradoxical anatomic response to topical carbonic anhydrase inhibitor in X-linked Retinoschisis. Ophthalmic Surg Lasers Imaging Retina. 2018;49(2):142–4.

    Article  PubMed  Google Scholar 

  82. Abalem MF, Musch DC, Birch DG, Pennesi ME, Heckenlively JR, Jayasundera T. Diurnal variations of foveoschisis by optical coherence tomography in patients with RS1 X-linked juvenile retinoschisis. Ophthalmic Genet. 2018;39(4):437–42.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  83. Gupta MP, Parlitsis G, Tsang S, Chan RV. Resolution of foveal schisis in X-linked retinoschisis in the setting of retinal detachment. J AAPOS: Official Publication Amer Assoc Pediatric Ophthalmol Strabismus. 2015;19(2):172–4.

    Article  Google Scholar 

  84. Iordanous Y, Sheidow TG. Vitrectomy for X-linked retinoschisis: a case report and literature review. Can J Ophthalmol. 2013;48(4):e71–4.

    Article  PubMed  Google Scholar 

  85. Ikeda F, Iida T, Kishi S. Resolution of retinoschisis after vitreous surgery in X-linked retinoschisis. Ophthalmology. 2008;115(4):718–22. e1.

    Google Scholar 

  86. Yu H, Li T, Luo Y, Yu S, Li S, Lei L, et al. Long-term outcomes of vitrectomy for progressive X-linked retinoschisis. Amer J Ophthalmol. 2012;154(2):394–402. e2.

    Google Scholar 

  87. Goel N, Ghosh B. Temporary resolution of foveal schisis following vitrectomy with silicon oil tamponade in X-linked retinoschisis with retinal detachment. Indian J Ophthalmol. 2015;63(11):867–8.

    Article  PubMed  PubMed Central  Google Scholar 

  88. Turut P, François P, Castier P, Milazzo S. Analysis of results in the treatment of peripheral retinoschisis in sex-linked congenital retinoschisis. Graefes Arch Clin Exp Ophthalmol. 1989;227(4):328–31.

    Article  CAS  PubMed  Google Scholar 

  89. Sobrin L, Berrocal AM, Murray TG. Retinal detachment 7 years after prophylactic schisis cavity excision in juvenile X-linked retinoschisis. Slack Incorporated Thorofare, NJ; 2003. p. 401–2.

    Google Scholar 

  90. Rosenfeld PJ, Flynn HW Jr, McDonald HR, Rubsamen PE, Smiddy WE, Sipperley JO, et al. Outcomes of vitreoretinal surgery in patients with X-linked retinoschisis. Ophthalmic Surg Lasers. 1998;29(3):190–7.

    Article  CAS  PubMed  Google Scholar 

  91. Ferrone PJ, Trese MT, Lewis H. Vitreoretinal surgery for complications of congenital retinoschisis. Am J Ophthalmol. 1997;123(6):742–7.

    Article  CAS  PubMed  Google Scholar 

  92. Sen P, Agarwal A, Bhende P, Gopal L, Bhende M, Rishi P, et al. Outcome of vitreoretinal surgery for rhegmatogenous retinal detachment in X-linked juvenile retinoschisis. Indian J Ophthalmol. 2018;66(12):1825–31.

    Article  PubMed  PubMed Central  Google Scholar 

  93. Schulman J, Peyman GA, Jednock N, Larson B. Indications for vitrectomy in congenital retinoschisis. Br J Ophthalmol. 1985;69(7):482–6.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  94. Regillo CD, Tasman WS, Brown GC. Surgical management of complications associated with X-linked retinoschisis. Archives of ophthalmology (Chicago, Ill : 1960). 1993;111(8):1080–6.

    Google Scholar 

  95. Wu WC, Drenser KA, Capone A, Williams GA, Trese MT. Plasmin enzyme-assisted vitreoretinal surgery in congenital X-linked retinoschisis: surgical techniques based on a new classification system. Retina. 2007;27(8):1079–85.

    Article  PubMed  Google Scholar 

  96. Lee JJ, Kim JH, Kim SY, Park SS, Yu YS. Infantile vitreous hemorrhage as the initial presentation of X-linked juvenile retinoschisis. Korean J Ophthalmol KJO. 2009;23(2):118–20.

    Article  PubMed  Google Scholar 

  97. Janssen A, Min SH, Molday LL, Tanimoto N, Seeliger MW, Hauswirth WW, et al. Effect of late-stage therapy on disease progression in AAV-mediated rescue of photoreceptor cells in the retinoschisin-deficient mouse. Molec Therapy J Amer Soc Gene Therapy. 2008;16(6):1010–7.

    Article  CAS  Google Scholar 

  98. Min SH, Molday LL, Seeliger MW, Dinculescu A, Timmers AM, Janssen A, et al. Prolonged recovery of retinal structure/function after gene therapy in an Rs1h-deficient mouse model of x-linked juvenile retinoschisis. Molec Therapy J Amer Soc Gene Therapy. 2005;12(4):644–51.

    Article  CAS  Google Scholar 

  99. Bush RA, Zeng Y, Colosi P, Kjellstrom S, Hiriyanna S, Vijayasarathy C, et al. Preclinical dose-escalation study of intravitreal AAV-RS1 gene therapy in a mouse model of x-linked retinoschisis: dose-dependent expression and improved retinal structure and function. Hum Gene Ther. 2016;27(5):376–89.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  100. Marangoni D, Bush RA, Zeng Y, Wei LL, Ziccardi L, Vijayasarathy C, et al. Ocular and systemic safety of a recombinant AAV8 vector for X-linked retinoschisis gene therapy: GLP studies in rabbits and Rs1-KO mice. Molec Therapy Methods Clin Dev. 2016;5:16011.

    Article  Google Scholar 

  101. Cukras C, Wiley HE, Jeffrey BG, Sen HN, Turriff A, Zeng Y, et al. Retinal AAV8-RS1 Gene Therapy for X-Linked Retinoschisis: initial findings from a phase I/IIa trial by intravitreal delivery. Molec Therapy J Amer Soc Gene Therapy. 2018;26(9):2282–94.

    Article  CAS  Google Scholar 

  102. Safety and Efficacy of rAAV-hRS1 in Patients With X-linked Retinoschisis (XLRS). ClinicalTrials.gov Identifier: NCT02416622. Available from: https://clinicaltrials.gov/ct2/show/NCT02416622. Accessed 23 Jan 2022.

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  1. School of Medicine, Ophthalmology Department, Gazi University, Ankara, Turkey

    Hüseyin Baran Özdemir & Şengül Özdek

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  1. Hüseyin Baran Özdemir
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  2. Şengül Özdek
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  1. Department of Ophthalmology, Gazi University School of Medicine, Ankara, Türkiye

    Şengül Özdek

  2. Bascom Palmer Eye Institute, Miami University, Florida, FL, USA

    Audina Berrocal

  3. Department of Ophthalmology, University of Uppsala, Uppsala, Sweden

    Ulrich Spandau

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Özdemir, H.B., Özdek, Ş. (2023). Congenital X-Linked Retinoschisis and Retinal Detachment. In: Özdek, Ş., Berrocal, A., Spandau, U. (eds) Pediatric Vitreoretinal Surgery. Springer, Cham. https://doi.org/10.1007/978-3-031-14506-3_36

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