Adult Presentation of X-Linked Retinoschisis: Patient and Physician Perspectives

Abstract

This commentary article is co-authored by an adult patient with X-linked retinoschisis and two ophthalmologists affiliated with the University Hospitals Birmingham NHS Foundation Trust. It describes the patient’s experiences of sight loss and the diagnosis and management of X-linked retinoschisis. The treating ophthalmologists then draw upon these experiences and discuss the disease and associated sight loss in a wider context.

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References

  1. 1.

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

    CAS  Article  Google Scholar 

  2. 2.

    Sieving PA, Bingham EL, Roth MS, Young MR, Boehnke M, Kuo CY, Ginsburg D. Linkage relationship of X-linked juvenile retinoschisis with Xp22.1-p22.3 probes. Am J Hum Genet. 1990;47(4):616.

  3. 3.

    Wu G, Cotlier E, Brodie S. A carrier state of X-linked juvenile retinoschisis. Ophthalmic Paediatr Genet. 1985;5(1–2):13–7.

    CAS  Article  Google Scholar 

  4. 4.

    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.

    CAS  Article  Google Scholar 

  5. 5.

    George ND, Yates JR, Moore AT. Clinical features in affected males with X-linked retinoschisis. Arch Ophthalmol. 1996;114(3):274–80.

    CAS  Article  Google Scholar 

  6. 6.

    Forsius H. Visual acuity in 183 cases of X-chromosomal retinoschisis. Can J Ophthalmol. 1973;8:385–93.

    CAS  PubMed  Google Scholar 

  7. 7.

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

    CAS  Google Scholar 

  8. 8.

    Grange L, Dalal M, Nussenblatt RB, Sen HN. Autoimmune retinopathy. Am J Ophthalmol. 2014;157(2):266–72.

    CAS  Article  Google Scholar 

  9. 9.

    Canamary AM, Takahashi WY, Sallum JM. Autoimmune retinopathy: a review. Int J Retina Vitreous. 2018;4(1):1.

    Article  Google Scholar 

  10. 10.

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

    CAS  Article  Google Scholar 

  11. 11.

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

    Article  Google Scholar 

  12. 12.

    Royal National Institute of Blind People. Homepage [Internet]. London: RNIB; 2020. www.rnib.org.uk. Accessed 8 Feb 2020.

  13. 13.

    Macular Society. Homepage [Internet]. Andover: Macular Society; 2020. www.macularsociety.org. Accessed 8 Feb 2020.

  14. 14.

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

    CAS  Article  Google Scholar 

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Acknowledgements

Funding

No funding or sponsorship was received for this study or the publication of this article.

Authorship

All named authors meet the International Committee of Medical Journal Editors (ICMJE) criteria for authorship for this article, take responsibility for the integrity of the work as a whole, and have given their approval for this version to be published.

Disclosures

Yu Jeat Chong, Grahame Price-Hunt and Alastair Denniston have no interests to disclose.

Compliance with Ethics Guidelines

This article is based on previously conducted studies and does not contain any studies with human participants or animals performed by any of the authors.

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Correspondence to Yu Jeat Chong.

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Chong, Y.J., Price-Hunt, G. & Denniston, A. Adult Presentation of X-Linked Retinoschisis: Patient and Physician Perspectives. Ophthalmol Ther 9, 15–19 (2020). https://doi.org/10.1007/s40123-020-00233-1

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Keywords

  • Adult onset
  • Patient perspective
  • X-linked retinoschisis