109
Views
0
CrossRef citations to date
0
Altmetric
Case Report

A patient with X-linked retinoschisis and exudative retinal detachment associated with a pathogenic hemizygous variant c.304c>T in RS1

, , , , ORCID Icon, & ORCID Icon show all
Pages 871-875 | Received 26 Jun 2022, Accepted 28 Nov 2022, Published online: 25 Jan 2023

References

  • Grigg JR, Hooper CY, Fraser CL, Cornish EE, McCluskey PJ, Jamieson RV. Outcome measures in juvenile X-linked retinoschisis: a systematic review. Eye (Lond). 2020;34(10):1760–69. doi:10.1038/s41433-020-0848-6.
  • Huang L, Sun L, Wang Z, Chen C, Wang P, Sun W, Luo X, Ding X. Clinical manifestation and genetic analysis in Chinese early onset X-linked retinoschisis. Mol Genet Genomic Med. 2020;8(10):e1421. doi:10.1002/mgg3.1421.
  • Heckenlively JR, Arden GB. editors. Principles and practice of clinical electrophysiology of vision. 2nd ed. London (England); 2006. 823–27p.
  • Yanoff M, Duker JS. editors. Ophthalmology. 3rd ed. Rio de Janeiro: Elsevier; 2009.
  • Smith LM, Cernichiaro-Espinosa LA, McKeown CA, Tekin M, Lam BL, Chiang J, Russell JF, Berrocal AM. X-linked peripheral retinoschisis without macular involvement: a case series with RS1 genetic confirmation. Ophthalmic Genet. 2020;41(1):57–62. doi:10.1080/13816810.2020.1723115.
  • Wood EH, Lertjirachai I, Ghiam BK, Koulisis N, Moysidis SN, Dirani A, Drenser KA, Capone A Jr, Trese MT. The natural history of congenital X-linked retinoschisis and conversion between phenotypes over time. Ophthalmol Retina. 2019;3(1):77–82. doi:10.1016/j.oret.2018.08.006.
  • Fong DS, Frederick AR Jr, Blumenkranz MS, Walton DS. Exudative retinal detachment in X-linked retinoschisis. Ophthalmic Surg Lasers. 1998;29(4):332–35. doi:10.3928/1542-8877-19980401-14.
  • Feund KB, Sarraf D, Mieler WF, Yannuzzi LA. The Retinal Atlas. 2nd ed. China: Elsevier; 2017. p. 29–36.
  • 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. doi:10.1016/j.preteyeres.2011.12.002.
  • Georgiou M, Finocchio L, Fujinami K, Fujinami-Yokokawa Y, Virgili G, Mahroo OA, Webster AR, Michaelides M. X-linked retinoschisis: deep phenotyping and genetic characterization. Ophthalmology. 2022;129(5):542–51. doi:10.1016/j.ophtha.2021.11.019.
  • Campbell JP, Skalet AH, Lauer AK. Vitreous veils associated with congenital X-linked retinoschisis. JAMA Ophthalmol. 2015;133(8):e151155. doi:10.1001/jamaophthalmol.2015.1155.
  • Sen P, Mishra S. Surgical management of a large retinal cyst in X-linked retinoschisis with internal drainage: report of an unusual case. Indian J Ophthalmol. 2020;68(10):2294–96. doi:10.4103/ijo.IJO_2336_19.
  • Alfonso-Muñoz EA, Català-Mora J, Díaz-Cascajosa J. X-linked retinoschisis without macular retinoschisis: a new RS1 mutation. Ophthalmol Retina. 2020;4(7):719. doi:10.1016/j.oret.2020.03.001.
  • DeLaey JJ, Heintz B, Pollet L. Retinal angioma and juvenile sex-linked retinoschisis. Ophthalmol Paed Genet. 1992;13(2):73–76. doi:10.3109/13816819209087607.
  • Mendelics - Análise Genômica. Mendelics: painel de retinopatia hereditárias. São Paulo (SP/Brazil); [ accessed 2022 Aug 10]. https://mendelics.com.br/especia lidades/oftalmologia-pt/painel-de-retinopatias-hereditarias/.
  • Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American college of medical genetics and genomics and the association for molecular pathology. Genet Med. 2015;17(5):405–24. doi:10.1038/gim.2015.30.
  • Sauer CG, Gehrig A, Warneke-Wittstock R, Marquardt A, Ewing CC, Gibson A, Lorenz B, Jurklies B, Weber BH. Positional cloning of the gene associated with X-linked juvenile retinoschisis. Nat Genet. 1997;17(2):164–70. doi:10.1038/ng1097-164.
  • Magliyah M, Alshamrani AA, Schatz P, Taskintuna I, Alzahrani Y, Nowilaty SR. Clinical spectrum, genetic associations and management outcomes of Coats-like exudative retinal vasculopathy in autosomal recessive retinitis pigmentosa. Ophthalmic Genet. 2021;42(2):178–85. doi:10.1080/13816810.2020.1867754.
  • Xiao H, Tong Y, Zhu Y, Peng M. Familial exudative vitreoretinopathy-related disease-causing genes and norrin/β-catenin signal pathway: structure, function, and mutation spectrums. J Ophthalmol. 2019;2019:5782536. doi:10.1155/2019/5782536.
  • Tanna P, Strauss RW, Fujinami K, Michaelides M. Stargardt disease: clinical features, molecular genetics, animal models and therapeutic options. Br J Ophthalmol. 2017;101(1):25–30. doi:10.1136/bjophthalmol-2016-308823.
  • Özateş S, Tekin K, Teke MY. Goldmann-favre syndrome: case series. Turk J Ophthalmol. 2018;48(1):47–51. doi:10.4274/tjo.76158.
  • Fragiotta S, Leong BCS, Kaden TR, Bass SJ, Sherman J, Yannuzzi LA, Freund KB. A proposed mechanism influencing structural patterns in X-linked retinoschisis and stellate nonhereditary idiopathic foveomacular retinoschisis. Eye (Lond). 2019;33(5):724–28. doi:10.1038/s41433-018-0296-8.
  • Bujakowska K, Audo I, Mohand-Saïd S, Lancelot ME, Antonio A, Germain A, Léveillard T, Letexier M, Saraiva JP, Lonjou C, et al. CRB1 mutations in inherited retinal dystrophies. Hum Mutat. 2012;33(2):306–15. doi:10.1002/humu.21653.
  • den Hollander AI, Heckenlively JR, van den Born LI, de Kok YJ, van der Velde-Visser SD, Kellner U, Jurklies B, van Schooneveld MJ, Blankenagel A, Rohrschneider K, et al. Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene. Am J Hum Genet. 2001;69(1):198–203. doi:10.1086/321263.
  • Gilmour DF. Familial exudative vitreoretinopathy and related retinopathies. Eye (Lond). 2015;29(1):1–14. doi:10.1038/eye.2014.70.
  • Shi L, Ko ML, Ko GY. Retinoschisin facilitates the function of L-type voltage-gated calcium channels. Front Cell Neurosci. 2017;11:232. doi:10.3389/fncel.2017.00232.
  • Keunen JE, Hoppenbrouwers RW. A case of sex-linked juvenile retinoschisis with peripheral vascular anomalies. Ophthalmologica. 1985;191(3):146–49. doi:10.1159/000309577.
  • Conway BP, Welch RB. X-chromosone-linked juvenile retinoschisis with hemorrhagic retinal cyst. Am J Ophthalmol. 1977;83(6):853–55. doi:10.1016/0002-9394(77)90913-8.
  • Hahn LC, van Schooneveld MJ, Wesseling NL, Florijn RJ, Ten Brink JB, Lissenberg-Witte BI, Strubbe I, Meester-Smoor MA, Thiadens AA, Diederen RM, et al. X-linked retinoschisis: novel clinical observations and genetic spectrum in 340 patients. Ophthalmology. 2022; 129(2):191-202.
  • Yannuzzi NA, Tzu JH, Hess DJ, Berrocal AM. Retinoschisis in the setting of Coats’ disease. Ophthalmic Surg Lasers Imaging Retina. 2014;45(2):172–74. doi:10.3928/23258160-20140306-13.
  • Morris B, Foot B, Mulvihill A. A population-based study of Coats disease in the United Kingdom I: epidemiology and clinical features at diagnosis. Eye (Lond). 2010;24(12):1797–801. doi:10.1038/eye.2010.126.
  • Sen M, Shields CL, Honavar SG, Shields JA. Coats disease: and overview of classification, management and outcomes. Indian J Ophthalmol. 2019;67(6):763–71. doi:10.4103/ijo.IJO_841_19.
  • Shields JA, Shields CL, Honavar SG, Demirci H, Cater J. Classification and management of Coats disease: the 2000 proctor lecture. Am J Ophthalmol. 2001;131(5):572–83. doi:10.1016/S0002-9394(01)00896-0.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.