Summary: A vitreoretinal dystrophy characterized by splitting of the neuroretinal layers. It occurs in two forms: degenerative retinoschisis and X chromosome-linked juvenile retinoschisis.

Top Publications

  1. Dhingra S, Patel C. Diagnosis and pathogenesis of congenital X-linked retinoschisis with optical coherence tomography. J Pediatr Ophthalmol Strabismus. 2010;47:105-7 pubmed publisher
    This study shows how optical coherence tomography has been valuable in the diagnosis of congenital X-linked retinoschisis. An infant with convergent strabismus underwent serial optical coherence tomography examinations that helped to ..
  2. Renner A, Kellner U, Fiebig B, Cropp E, Foerster M, Weber B. ERG variability in X-linked congenital retinoschisis patients with mutations in the RS1 gene and the diagnostic importance of fundus autofluorescence and OCT. Doc Ophthalmol. 2008;116:97-109 pubmed
    X-linked congenital retinoschisis (RS) is a relatively frequent retinal dystrophy associated with RS1 gene mutations. A negative electroretinogram (ERG), i.e., a b/a wave ratio <1...
  3. Min S, Molday L, Seeliger M, Dinculescu A, Timmers A, Janssen A, et al. Prolonged recovery of retinal structure/function after gene therapy in an Rs1h-deficient mouse model of x-linked juvenile retinoschisis. Mol Ther. 2005;12:644-51 pubmed
    X-linked juvenile retinoschisis (RS) is a common cause of juvenile macular degeneration in males...
  4. Park T, Wu Z, Kjellstrom S, Zeng Y, Bush R, Sieving P, et al. Intravitreal delivery of AAV8 retinoschisin results in cell type-specific gene expression and retinal rescue in the Rs1-KO mouse. Gene Ther. 2009;16:916-26 pubmed publisher
    X-linked juvenile retinoschisis (XLRS) is a neurodevelopmental abnormality caused by retinoschisin gene mutations...
  5. Iannaccone A, Fung K, Eyestone M, Stone E. Treatment of adult-onset acute macular retinoschisis in enhanced s-cone syndrome with oral acetazolamide. Am J Ophthalmol. 2009;147:307-312.e2 pubmed publisher
    To report on the efficacy of the oral carbonic anhydrase inhibitor (CAI) acetazolamide in treating macular retinoschisis (RS) in the rare vitreoretinal dystrophy best known as the enhanced S-cone syndrome (ESCS)...
  6. Lesch B, Szabo V, Kanya M, Varsanyi B, Somfai G, Hargitai J, et al. Truncation of retinoschisin protein associated with a novel splice site mutation in the RS1 gene. Mol Vis. 2008;14:1549-58 pubmed
    To present the ocular findings of a Hungarian family with X-linked juvenile retinoschisis (XLRS) and to reveal a novel putative splice mutation leading to serious truncation of retinoschisin (RS1) protein...
  7. Tsang S, Vaclavik V, Bird A, Robson A, Holder G. Novel phenotypic and genotypic findings in X-linked retinoschisis. Arch Ophthalmol. 2007;125:259-67 pubmed
    To describe atypical phenotypes associated with the retinoschisis (X-linked, juvenile) 1 mutation (RS1). Seven patients with multiple fine white dots at the macula and reduced visual acuity were evaluated...
  8. Donahue L, Chang B, Mohan S, Miyakoshi N, Wergedal J, Baylink D, et al. A missense mutation in the mouse Col2a1 gene causes spondyloepiphyseal dysplasia congenita, hearing loss, and retinoschisis. J Bone Miner Res. 2003;18:1612-21 pubmed
    ..Adults have shortened noses, dysplastic vertebrae, femora, and tibias, plus retinoschisis and hearing loss. The mutation was mapped to Chr15, and Col2a1 was identified as a candidate gene...
  9. Lesch B, Szabo V, Kanya M, Somfai G, Vamos R, Varsanyi B, et al. Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis. Mol Vis. 2008;14:2321-32 pubmed
    To determine clinical phenotypes, examine the age dependency of X-linked juvenile retinoschisis (XLRS), and identify mutations in the retinoschisis1 gene (RS1) in 13 Hungarian (Caucasian) families with this disease.

More Information


  1. Hirakata A, Hida T. Vitrectomy for myopic posterior retinoschisis or foveal detachment. Jpn J Ophthalmol. 2006;50:53-61 pubmed
    To evaluate the efficacy of vitrectomy for posterior retinoschisis (RS) or foveal detachment (FD) associated with posterior staphyloma in myopic eyes...
  2. Zeng M, Yi C, Guo X, Jia X, Deng Y, Wang J, et al. Identification of novel mutations in the XLRS1 gene in Chinese patients with X-linked juvenile retinoschisis. Curr Eye Res. 2007;32:685-91 pubmed
    X-linked juvenile retinoschisis (XLRS) is a major cause of macular degeneration in young men...
  3. Koh H, Jwa N, Kim S, Lee S, Kwon O. A novel mutation in the XLRS1 gene in a Korean family with X-linked retinoschisis. Korean J Ophthalmol. 2006;20:62-4 pubmed
    To report a novel missense mutation in the XLRS1 gene in a Korean family with X-linked retinoschisis. Observation case report of a family with a proband with X-linked retinoschisis underwent complete ophthalmologic examination...
  4. 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;87:1130-4 pubmed
    To describe the clinical phenotype of X linked juvenile retinoschisis in eight Italian families with six different mutations in the XLRS1 gene...
  5. Wang T, Waters C, Rothman A, Jakins T, Römisch K, Trump D. Intracellular retention of mutant retinoschisin is the pathological mechanism underlying X-linked retinoschisis. Hum Mol Genet. 2002;11:3097-105 pubmed
    X-linked retinoschisis results in visual loss in early life with splitting within the inner retinal layers...
  6. Hayashi T, Kitahara K. Optical coherence tomography in enhanced S-cone syndrome: large macular retinoschisis with disorganized retinal lamination. Eur J Ophthalmol. 2005;15:643-6 pubmed
    ..The purpose of the current study was to describe the patient's optical coherence tomography (OCT) findings...
  7. Jablonski M, Dalke C, Wang X, Lu L, Manly K, Pretsch W, et al. An ENU-induced mutation in Rs1h causes disruption of retinal structure and function. Mol Vis. 2005;11:569-81 pubmed
    ..Genetic analysis revealed a mutation in Rs1h, making this the first murine model of X-linked retinoschisis in which the gene is expressed.
  8. Kjellstrom S, Bush R, Zeng Y, Takada Y, Sieving P. Retinoschisin gene therapy and natural history in the Rs1h-KO mouse: long-term rescue from retinal degeneration. Invest Ophthalmol Vis Sci. 2007;48:3837-45 pubmed
    ..The Rs1h-KO mouse is consistent with human clinical X-linked juvenile retinoschisis (XLRS) in showing schisis cavities, which affect primarily the b-wave, the regression of schisis cavities at ..
  9. Zeng Y, Takada Y, Kjellstrom S, Hiriyanna K, Tanikawa A, Wawrousek E, et al. 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. 2004;45:3279-85 pubmed
    To create and evaluate a mouse model of human X-linked juvenile retinoschisis (XLRS) and then investigate whether supplementing with the retinoschisin protein by gene delivery can reverse the abnormal "electronegative" ..
  10. Hewitt A, FitzGerald L, Scotter L, Mulhall L, McKay J, Mackey D. Genotypic and phenotypic spectrum of X-linked retinoschisis in Australia. Clin Exp Ophthalmol. 2005;33:233-9 pubmed
    X-linked retinoschisis (XLRS), an X-linked recessive inherited degenerative retinopathy, is characterized by splitting in the nerve fibre layer and is caused by alterations in the RS1 gene...
  11. Yeh S, Chang W, Chen L. Vitrectomy without internal limiting membrane peeling for macular retinoschisis and foveal detachment in highly myopic eyes. Acta Ophthalmol. 2008;86:219-24 pubmed
    ..vitrectomy (PPV) without internal limiting membrane (ILM) peeling in three highly myopic patients with macular retinoschisis and associated posterior staphyloma...
  12. Molday L, Wu W, Molday R. Retinoschisin (RS1), the protein encoded by the X-linked retinoschisis gene, is anchored to the surface of retinal photoreceptor and bipolar cells through its interactions with a Na/K ATPase-SARM1 complex. J Biol Chem. 2007;282:32792-801 pubmed
    Retinoschisin or RS1 is a discoidin domain-containing protein encoded by the gene responsible for X-linked retinoschisis (XLRS), an early onset macular degeneration characterized by a splitting of the retina...
  13. Dyka F, Molday R. Coexpression and interaction of wild-type and missense RS1 mutants associated with X-linked retinoschisis: its relevance to gene therapy. Invest Ophthalmol Vis Sci. 2007;48:2491-7 pubmed
    X-linked retinoschisis (XLRS) is an early-onset retinal disease caused by mutations in retinoschisin (RS1), a multisubunit, extracellular protein implicated in retinal cell adhesion...
  14. Shimada N, Ohno Matsui K, Baba T, Futagami S, Tokoro T, Mochizuki M. Natural course of macular retinoschisis in highly myopic eyes without macular hole or retinal detachment. Am J Ophthalmol. 2006;142:497-500 pubmed
    To investigate the natural course of macular retinoschisis in highly myopic patients.
  15. Kjellström S, Vijayasarathy C, Ponjavic V, Sieving P, Andréasson S. Long-term 12 year follow-up of X-linked congenital retinoschisis. Ophthalmic Genet. 2010;31:114-25 pubmed publisher
    To investigate the retinal structure and function during the progression of X-linked retinoschisis (XLRS) from childhood to adulthood...
  16. Kim J, Boes D, Kinyoun J. Optical coherence tomography of bilateral posterior microphthalmos with papillomacular fold and novel features of retinoschisis and dialysis. Am J Ophthalmol. 2004;138:480-1 pubmed
    To report a case of retinoschisis and dialysis associated with bilateral posterior microphthalmos and papillomacular fold.
  17. Gaucher D, Haouchine B, Tadayoni R, Massin P, Erginay A, Benhamou N, et al. Long-term follow-up of high myopic foveoschisis: natural course and surgical outcome. Am J Ophthalmol. 2007;143:455-62 pubmed
    ..To determine the natural evolution and surgical indications of myopic foveoschisis (MF), which are still poorly documented, and the factors that predict poor prognosis...
  18. Molday R. Focus on molecules: retinoschisin (RS1). Exp Eye Res. 2007;84:227-8 pubmed
  19. Wu W, Molday R. Defective discoidin domain structure, subunit assembly, and endoplasmic reticulum processing of retinoschisin are primary mechanisms responsible for X-linked retinoschisis. J Biol Chem. 2003;278:28139-46 pubmed
    ..Over 125 different mutations in the RS1 gene are associated with X-linked juvenile retinoschisis, the most common form of early onset macular degeneration in males...
  20. Apushkin M, Fishman G, Janowicz M. Correlation of optical coherence tomography findings with visual acuity and macular lesions in patients with X-linked retinoschisis. Ophthalmology. 2005;112:495-501 pubmed
    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).
  21. Shimada N, Ohno Matsui K, Yoshida T, Futagami S, Tokoro T, Mochizuki M. Development of macular hole and macular retinoschisis in eyes with myopic choroidal neovascularization. Am J Ophthalmol. 2008;145:155-161 pubmed
    To determine whether the chorioretinal atrophy (ChRA) adjacent to a choroidal neovascularization (CNV) is related to the development of a macular hole or macular retinoschisis in highly myopic eyes.
  22. Piao C, Kondo M, Nakamura M, Terasaki H, Miyake Y. Multifocal electroretinograms in X-linked retinoschisis. Invest Ophthalmol Vis Sci. 2003;44:4920-30 pubmed
    To study local retinal cone function in patients with X-linked retinoschisis (XLRS) by multifocal ERGs (mfERGs).
  23. Zhao M, Li X. Macular retinoschisis associated with normal tension glaucoma. Graefes Arch Clin Exp Ophthalmol. 2011;249:1255-8 pubmed publisher
    To describe a case of macular retinoschisis in a patient with normal tension glaucoma without evidence of optic nerve pits or peripapillary retinoschisis.
  24. Shukla D, Naresh K, Rajendran A, Kim R. Macular hole secondary to X-linked retinoschisis. Eye (Lond). 2006;20:1459-61 pubmed
  25. Minami Y, Ishiko S, Takai Y, Kato Y, Kagokawa H, Takamiya A, et al. Retinal changes in juvenile X linked retinoschisis using three dimensional optical coherence tomography. Br J Ophthalmol. 2005;89:1663-4 pubmed
  26. Shanmugam M, Nagpal A. Foveal schisis as a cause of retinal detachment secondary to macular hole in juvenile X-linked retinoschisis. Retina. 2005;25:373-5 pubmed
  27. Prasad A, Wagner R, Bhagat N. Vitreous hemorrhage as the initial manifestation of X-linked retinoschisis in a 9-month-old infant. J Pediatr Ophthalmol Strabismus. 2006;43:56-8 pubmed
    ..X-linked retinoschisis was diagnosed on the basis of electroretinogram findings...
  28. Meirelles R, Aggio F, Costa R, Farah M. STRATUS optical coherence tomography in unilateral colobomatous excavation of the optic disc and secondary retinoschisis. Graefes Arch Clin Exp Ophthalmol. 2005;243:76-81 pubmed
    ..optical coherence tomography (STRATUSOCT) findings in a patient with unilateral coloboma-like excavation of the optic disc without pit but secondary retinoschisis, as well as to discuss the possible involved pathophysiologic mechanisms.
  29. Xu J, Gu H, Ma K, Liu X, Snellingen T, Sun E, et al. R213W mutation in the retinoschisis 1 gene causes X-linked juvenile retinoschisis in a large Chinese family. Mol Vis. 2010;16:1593-600 pubmed
    We identified a large Chinese family with X-linked juvenile retinoschisis. The purpose of this study was to report the clinical findings of the family and to identify the genetic mutation by screening the retinoschisis 1 (RS1) gene.
  30. Shimada N, Ohno Matsui K, Yoshida T, Sugamoto Y, Tokoro T, Mochizuki M. Progression from macular retinoschisis to retinal detachment in highly myopic eyes is associated with outer lamellar hole formation. Br J Ophthalmol. 2008;92:762-4 pubmed publisher
    To investigate the morphological changes that occur during the development of an early retinal detachment (RD) from a myopic macular retinoschisis (MRS) by optical coherence tomography (OCT).
  31. Vijayasarathy C, Takada Y, Zeng Y, Bush R, Sieving P. Retinoschisin is a peripheral membrane protein with affinity for anionic phospholipids and affected by divalent cations. Invest Ophthalmol Vis Sci. 2007;48:991-1000 pubmed
    Retinoschisin (RS) is a retina-specific, secreted protein implicated in X-linked juvenile retinoschisis and essential for the structural and functional integrity of the retina...
  32. Chan W, Choy K, Wang J, Lam D, Yip W, Fu W, et al. Two cases of X-linked juvenile retinoschisis with different optical coherence tomography findings and RS1 gene mutations. Clin Exp Ophthalmol. 2004;32:429-32 pubmed
    ..OCT) findings, clinical features, and mutations in the RS1 gene of two unrelated patients with X-linked retinoschisis (XLRS) are reported herein...
  33. Eriksson U, Larsson E, Holmstrom G. Optical coherence tomography in the diagnosis of juvenile X-linked retinoschisis. Acta Ophthalmol Scand. 2004;82:218-23 pubmed
    To describe the value of optical coherence tomography (OCT) as a diagnostic tool in the diagnosis of X-linked retinoschisis.
  34. Kim J, Ruttum M, Koeberl M, Hassemer E, Sidjanin D. Genetic and clinical evaluation of juvenile retinoschisis. J AAPOS. 2009;13:215-7 pubmed publisher
    Juvenile retinoschisis is a rare retinal dystrophy caused by RS1 gene mutations...
  35. Li X, Ma X, Tao Y. Clinical features of X linked juvenile retinoschisis in Chinese families associated with novel mutations in the RS1 gene. Mol Vis. 2007;13:804-12 pubmed
    To describe the clinical phenotype of X linked juvenile retinoschisis (XLRS) in 12 Chinese families with 11 different mutations in the XLRS1 (RS1) gene.
  36. Lledó B, Ten J, Rodriguez Arnedo D, Llácer J, Bernabeu R. Preimplantation genetic diagnosis of X-linked retinoschisis. Reprod Biomed Online. 2008;16:886-92 pubmed
    The aim of this study was to perform preimplantation genetic diagnosis (PGD) for X-linked retinoschisis using multiple displacement amplification (MDA) for whole genome amplification and linked markers to the RS1 gene...
  37. Delgado D, del Pozo Rodríguez A, Solinís M, Avilés Triqueros M, Weber B, Fernandez E, et al. Dextran and protamine-based solid lipid nanoparticles as potential vectors for the treatment of X-linked juvenile retinoschisis. Hum Gene Ther. 2012;23:345-55 pubmed publisher
    ..lipid nanoparticles (SLN) for the treatment of ocular diseases by gene therapy, specifically X-linked juvenile retinoschisis (XLRS). Vectors were prepared with SLN, dextran, protamine, and a plasmid (pCMS-EGFP or pCEP4-RS1)...
  38. Wu W, Wong J, Kast J, Molday R. 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;280:10721-30 pubmed
    ..Mutations in RS1 are responsible for X-linked retinoschisis, a common, early-onset macular degeneration in males that results in a splitting of the inner layers of the ..
  39. Sayanagi K, Ikuno Y, Tano Y. Spontaneous resolution of retinoschisis and consequent development of retinal detachment in highly myopic eye. Br J Ophthalmol. 2006;90:652-3 pubmed
  40. Yoshikawa T, Nishimura T, Minamino K, Takahashi K. A long-term follow-up of peripapillary retinoschisis with optic disc hypoplasia. Int Ophthalmol. 2013;33:425-8 pubmed publisher
    Peripapillary and macular retinoschisis are usually associated with optic disc pits. We report a rare case of peripapillary retinoschisis with optic disc hypoplasia. A 59-year-old woman presented with asthenopia...
  41. Takada Y, Vijayasarathy C, Zeng Y, Kjellstrom S, Bush R, Sieving P. Synaptic pathology in retinoschisis knockout (Rs1-/y) mouse retina and modification by rAAV-Rs1 gene delivery. Invest Ophthalmol Vis Sci. 2008;49:3677-86 pubmed publisher
    ..These findings and the improved structural integrity of the OPL and b-wave amplitude after Rs1 gene transfer therapy provide a cellular and molecular basis for interpreting the changes in retinal signaling in this model. ..
  42. Song I, Shin J, Shin Y, Uhm K. Optic disc pit with peripapillary retinoschisis presenting as a localized retinal nerve fiber layer defect. Korean J Ophthalmol. 2011;25:455-8 pubmed publisher
    ..In an optical coherence tomography examination, the macula was flat, but an arcuate-shaped peripapillary retinoschisis was found...
  43. Tanaka Y, Shimada N, Ohno Matsui K, Hayashi W, Hayashi K, Moriyama M, et al. Retromode retinal imaging of macular retinoschisis in highly myopic eyes. Am J Ophthalmol. 2010;149:635-640.e1 pubmed publisher
    To determine the characteristics of a macular retinoschisis using noninvasive retromode imaging by a new, commercial confocal scanning laser ophthalmoscope (F10; Nidek, Aichi, Japan) and to compare the findings with those obtained by ..
  44. Dhrami Gavazi E, Schiff W, Barile G. Nanophthalmos and acquired retinoschisis. Am J Ophthalmol. 2009;147:108-110.e1 pubmed publisher
    To report three cases of nanophthalmos associated with acquired (senile) retinoschisis.
  45. Sergeev Y, Caruso R, Meltzer M, Smaoui N, MacDonald I, Sieving P. Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis. Hum Mol Genet. 2010;19:1302-13 pubmed publisher
    Gene mutations that encode retinoschisin (RS1) cause X-linked retinoschisis (XLRS), a form of juvenile macular and retinal degeneration that affects males...
  46. Riveiro Alvarez R, Trujillo Tiebas M, Gimenez Pardo A, Garcia Hoyos M, Lopez Martinez M, Aguirre Lamban J, et al. Correlation of genetic and clinical findings in Spanish patients with X-linked juvenile retinoschisis. Invest Ophthalmol Vis Sci. 2009;50:4342-50 pubmed publisher
    X-linked juvenile retinoschisis (XLRS) is one of the most common causes of juvenile macular degeneration in males, characterized by microcystic changes, splitting within the inner retinal layer (schisis), and the presence of vitreous ..
  47. Sato M, Oshika T, Kaji Y, Nose H. Three novel mutations in the X-linked juvenile retinoschisis (XLRS1) gene in 6 Japanese patients, 1 of whom had Turner's syndrome. Ophthalmic Res. 2003;35:295-300 pubmed
    We examined the XLRS1 gene for mutations in 6 Japanese patients with X-linked juvenile retinoschisis from a total of three families (5 males and 1 female), and from 3 obligate carrier females...
  48. Shinoda K, Ohde H, Ishida S, Inoue M, Oguchi Y, Mashima Y. Novel 473-bp deletion in XLRS1 gene in a Japanese family with X-linked juvenile retinoschisis. Graefes Arch Clin Exp Ophthalmol. 2004;242:561-5 pubmed
    To present the clinical features of two brothers with molecularly confirmed X-linked juvenile retinoschisis (xlRS) but with non-characteristic electrophysiological findings.
  49. Brucker A, Spaide R, Gross N, Klancnik J, Noble K. Optical coherence tomography of X-linked retinoschisis. Retina. 2004;24:151-2 pubmed
  50. Takada Y, Fariss R, Tanikawa A, Zeng Y, Carper D, Bush R, et al. A retinal neuronal developmental wave of retinoschisin expression begins in ganglion cells during layer formation. Invest Ophthalmol Vis Sci. 2004;45:3302-12 pubmed
    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...
  51. Johnson B, Aoyama N, Friedell N, Ikeda S, Ikeda A. Genetic modification of the schisis phenotype in a mouse model of X-linked retinoschisis. Genetics. 2008;178:1785-94 pubmed publisher
    X-linked retinoschisis (XLRS) is an inherited form of macular degeneration that is caused by mutations in the retinoschisin (RS1) gene...
  52. Kanda S, Uemura A, Sakamoto Y, Kita H. Vitrectomy with internal limiting membrane peeling for macular retinoschisis and retinal detachment without macular hole in highly myopic eyes. Am J Ophthalmol. 2003;136:177-80 pubmed
    To report anatomic and visual improvement following vitrectomy with internal limiting membrane (ILM) peeling for two highly myopic patients with retinoschisis and/or retinal detachment without a macular hole.
  53. Kobayashi H, Kishi S. Vitreous surgery for highly myopic eyes with foveal detachment and retinoschisis. Ophthalmology. 2003;110:1702-7 pubmed
    To evaluate the efficacy of vitreous surgery for highly myopic eyes with foveal detachment and retinoschisis.
  54. Ozdemir H, Karacorlu S, Karacorlu M. Optical coherence tomography findings in familial foveal retinoschisis. Am J Ophthalmol. 2004;137:179-81 pubmed
    To report the optical coherence tomography findings of a 5-year-old boy with familial foveal retinoschisis.
  55. Friedrich U, Stohr H, Hilfinger D, Loenhardt T, Schachner M, Langmann T, et al. The Na/K-ATPase is obligatory for membrane anchorage of retinoschisin, the protein involved in the pathogenesis of X-linked juvenile retinoschisis. Hum Mol Genet. 2011;20:1132-42 pubmed publisher
    Mutations in the RS1 gene that encodes the discoidin domain containing retinoschisin cause X-linked juvenile retinoschisis (XLRS), a common macular degeneration in males...
  56. Pimenides D, George N, Yates J, Bradshaw K, Roberts S, Moore A, et al. X-linked retinoschisis: clinical phenotype and RS1 genotype in 86 UK patients. J Med Genet. 2005;42:e35 pubmed
    Inactivating mutations of the gene RS1 lead to X-linked retinoschisis, a progressive retinal dystrophy characterised by schisis within the inner layers of the neuroretina. The mutation spectrum is large and the phenotype variable.
  57. Hirakata A, Hida T, Ogasawara A, Iizuka N. Multilayered retinoschisis associated with optic disc pit. Jpn J Ophthalmol. 2005;49:414-6 pubmed
    Recently, optical coherence tomography (OCT) analysis has contributed greatly to the detection of posterior retinoschisis associated with optic disc pits. We report an unusual case of optic disc pit maculopathy.
  58. Wu W, Drenser K, Capone A, Williams G, Trese M. Plasmin enzyme-assisted vitreoretinal surgery in congenital X-linked retinoschisis: surgical techniques based on a new classification system. Retina. 2007;27:1079-85 pubmed
    To review the surgical outcome of autologous plasmin enzyme-assisted vitreoretinal surgery in managing complications associated with congenital X-linked retinoschisis (CXLRS).
  59. Gerth C, Zawadzki R, Werner J, Heon E. Retinal morphological changes of patients with X-linked retinoschisis evaluated by Fourier-domain optical coherence tomography. Arch Ophthalmol. 2008;126:807-11 pubmed publisher
    To investigate the retinal microstructure and lamination of patients affected with X-linked retinoschisis (XLRS) using high-resolution imaging modalities.
  60. Scott I, Moshfeghi A, Flynn H. Surgical management of macular retinoschisis associated with high myopia. Arch Ophthalmol. 2006;124:1197-9 pubmed
  61. Prenner J, Capone A, Ciaccia S, Takada Y, Sieving P, Trese M. Congenital X-linked retinoschisis classification system. Retina. 2006;26:S61-4 pubmed
    To establish a classification system for congenital X-linked retinoschisis (CXLRS) using clinical examination and optical coherence tomography (OCT).
  62. Yi J, Li S, Jia X, Xiao X, Wang P, Guo X, et al. Novel RS1 mutations associated with X-linked juvenile retinoschisis. Int J Mol Med. 2012;29:644-8 pubmed publisher
    To identify mutations in the retinoschisin (RS1) gene in families with X-linked retinoschisis (XLRS). Twenty families with XLRS were enrolled in this study...
  63. Molday R, Kellner U, Weber B. X-linked juvenile retinoschisis: clinical diagnosis, genetic analysis, and molecular mechanisms. Prog Retin Eye Res. 2012;31:195-212 pubmed publisher
    X-linked juvenile retinoschisis (XLRS, MIM 312700) is a common early onset macular degeneration in males characterized by mild to severe loss in visual acuity, splitting of retinal layers, and a reduction in the b-wave of the ..
  64. Ikeda F, Iida T, Kishi S. Resolution of retinoschisis after vitreous surgery in X-linked retinoschisis. Ophthalmology. 2008;115:718-722.e1 pubmed
    To describe the efficacy of vitreous surgery to treat X-linked retinoschisis.
  65. Xu F, Xiang H, Jiang R, Dong F, Sui R. Phenotypic expression of X-linked retinoschisis in Chinese families with mutations in the RS1 gene. Doc Ophthalmol. 2011;123:21-7 pubmed publisher
    To assess the clinical features of and identify genetic defects in six Chinese families with X-linked retinoschisis (XLRS). Patients were recruited from ophthalmic clinics in Peking Union Medical College Hospital...
  66. Wang T, Zhou A, Waters C, O CONNOR E, Read R, Trump D. Molecular pathology of X linked retinoschisis: mutations interfere with retinoschisin secretion and oligomerisation. Br J Ophthalmol. 2006;90:81-6 pubmed
    X linked retinoschisis (XLRS) is caused by mutations in RS1 which encodes the discoidin domain protein retinoschisin, secreted by photoreceptors and bipolar cells...
  67. Hayashi T, Omoto S, Takeuchi T, Kozaki K, Ueoka Y, Kitahara K. Four Japanese male patients with juvenile retinoschisis: only three have mutations in the RS1 gene. Am J Ophthalmol. 2004;138:788-98 pubmed
    To describe the clinical phenotypes of four unrelated Japanese male patients with juvenile retinoschisis and to investigate occurrences of mutations in the RS1 gene.
  68. Walia S, Fishman G, Molday R, Dyka F, Kumar N, Ehlinger M, et al. Relation of response to treatment with dorzolamide in X-linked retinoschisis to the mechanism of functional loss in retinoschisin. Am J Ophthalmol. 2009;147:111-115.e1 pubmed publisher
    ..if a positive response of macular cysts to treatment with dorzolamide eye drops in patients with juvenile X-linked retinoschisis (XLRS) can occur with mutations that result in different types of retinoschisin protein dysfunction.
  69. Luna G, Kjellstrom S, Verardo M, Lewis G, Byun J, Sieving P, et al. The effects of transient retinal detachment on cavity size and glial and neural remodeling in a mouse model of X-linked retinoschisis. Invest Ophthalmol Vis Sci. 2009;50:3977-84 pubmed publisher
    ..This finding suggests that performing subretinal injections to deliver therapeutic agents may be a viable option in the treatment of patients with retinoschisis without causing significant cellular damage to the retina.
  70. Rodriguez F, Rodriguez A, Mendoza Londono R, Tamayo M. X-linked retinoschisis in three females from the same family: a phenotype-genotype correlation. Retina. 2005;25:69-74 pubmed
    To describe the clinical findings and outcome for three homozygous females affected with X-linked retinoschisis (XLRS) in a large Colombian family with 26 affected males.
  71. Buch H, Vinding T, Nielsen N. Prevalence and long-term natural course of retinoschisis among elderly individuals: the Copenhagen City Eye Study. Ophthalmology. 2007;114:751-5 pubmed
    To characterize the prevalence and natural course of retinoschisis in a 14-year follow-up study.
  72. Molday L, Min S, Seeliger M, Wu W, Dinculescu A, Timmers A, et al. Disease mechanisms and gene therapy in a mouse model for X-linked retinoschisis. Adv Exp Med Biol. 2006;572:283-9 pubmed
  73. Gao H, Kusumi R, Yung C. Optical coherence tomographic findings in X-linked juvenile retinoschisis. Arch Ophthalmol. 2005;123:1006-8 pubmed
  74. Kim S, Ko H, Yu Y, Hwang J, Lee J, Kim S, et al. Molecular genetic characteristics of X-linked retinoschisis in Koreans. Mol Vis. 2009;15:833-43 pubmed
    X-linked retinoschisis (XLRS) is a recessively inherited disorder that causes macular degeneration and resultant visual defect in young males. Many genetic studies had focused on the patients in Western countries...
  75. Iannaccone A, Mura M, Dyka F, Ciccarelli M, Yashar B, Ayyagari R, et al. An unusual X-linked retinoschisis phenotype and biochemical characterization of the W112C RS1 mutation. Vision Res. 2006;46:3845-52 pubmed
  76. Janssen A, Min S, Molday L, Tanimoto N, Seeliger M, Hauswirth W, et al. Effect of late-stage therapy on disease progression in AAV-mediated rescue of photoreceptor cells in the retinoschisin-deficient mouse. Mol Ther. 2008;16:1010-7 pubmed publisher
    ..for a successful adeno-associated virus serotype 5 (AAV5)-mediated gene therapy in X-linked juvenile retinoschisis (XLRS) has been demonstrated in an established mouse model for this condition...
  77. Xu J, Molday L, Molday R, Sarunic M. In vivo imaging of the mouse model of X-linked juvenile retinoschisis with fourier domain optical coherence tomography. Invest Ophthalmol Vis Sci. 2009;50:2989-93 pubmed publisher
    The purpose of this study was to investigate Fourier domain optical coherence tomography (FD OCT) as a noninvasive tool for retinal imaging in the Rs1h-knockout mouse (model for X-linked juvenile retinoschisis).