Skip to main content

Advertisement

SpringerLink
Log in

A case of X-linked retinoschisis with atypical fundus appearance

  • Clinical Case Report
  • Published:
Documenta Ophthalmologica Aims and scope Submit manuscript

Abstract

Purpose

Mutations in the RS1 gene are known to cause retinoschisis, an X-linked hereditary retinal degeneration. Here, we present a case of atypical retinoschisis with clinical findings of retinoschisis and retinitis pigmentosa.

Methods

This report is an observational case report. The detailed ophthalmological examinations included visual field determination, multimodal imaging and electrophysiological recordings. Targeted next-generation sequencing of a retinal disease gene panel was performed.

Results

The 55-year-old male, highly hyperopic patient, presented with a best-corrected Snellen visual acuity of 20/100 in the right eye and 20/400 in the left eye. In the kinetic visual field, there was a superior scotoma, as well as a ring scotoma in the inferior hemisphere in the right eye and a concentric visual field constriction to 10° in the left eye. Funduscopy revealed marked pigmentary changes (i.e. bone spicules) in the mid-periphery bilaterally and symmetrically, as well as two small intra-retinal haemorrhages in the left eye. Full-field electroretinography recordings showed extinguished rod and cone responses. Diagnostic–genetic testing revealed a hemizygous missense mutation in the RS1 gene (c.305G > A; p.Arg102Gln) was identified.

Conclusion

We present a case of atypical retinoschisis with clinical findings of retinitis pigmentosa.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Fig. 1
Fig. 2
Fig. 3
Fig. 4
Fig. 5
Fig. 6

References

  1. Sikkink SK, Biswas S, Parry NRA et al (2007) X-linked retinoschisis: an update. J Med Genet 44:225–232. https://doi.org/10.1136/jmg.2006.047340

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  2. Deutman AF (1971) Sex-linked juvenile retinoschisis. In: Deutman AF (ed) The hereditary dystrophies of the posterior pole of the eye. Van Gorcum, Assen, pp 48–99

    Google Scholar 

  3. George NDL, Yates JRW, Moore AT (1995) X linked retinoschisis. Br J Ophthalmol 79:697–702

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  4. Pagon RA (1988) Retinitis pigmentosa. Surv Ophthalmol 33:137–177. https://doi.org/10.1016/0039-6257(88)90085-9

    Article  CAS  PubMed  Google Scholar 

  5. Li Z-Y, Possin DE, Milam AH (1995) Histopathology of bone spicule pigmentation in retinitis pigmentosa. Ophthalmology 102:805–816. https://doi.org/10.1016/S0161-6420(95)30953-0

    Article  CAS  PubMed  Google Scholar 

  6. McCulloch DL, Marmor MF, Brigell MG et al (2015) Erratum to: ISCEV Standard for full-field clinical electroretinography (2015 update). Doc Ophthalmol 131:81–83. https://doi.org/10.1007/s10633-015-9504-z

    Article  PubMed  Google Scholar 

  7. Weisschuh N, Mayer AK, Strom TM et al (2016) Mutation detection in patients with retinal dystrophies using targeted next generation sequencing. PLoS ONE 11:e0145951. https://doi.org/10.1371/journal.pone.0145951

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  8. Glöckle N, Kohl S, Mohr J et al (2013) Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies. Eur J Hum Genet 22:99–104. https://doi.org/10.1038/ejhg.2013.72

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  9. The Retinoschisis Consortium (1998) Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis. Hum Mol Genet 7:1185–1192

    Article  Google Scholar 

  10. Saldana M, Thompson J, Monk E et al (2007) X-linked retinoschisis in a female with a heterozygous RS1 missense mutation. Am J Med Genet Part A 143A:608–609. https://doi.org/10.1002/ajmg.a.31568

    Article  PubMed  Google Scholar 

  11. Sergeev YV, Caruso RC, Meltzer MR et al (2010) Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis. Hum Mol Genet 19:1302–1313. https://doi.org/10.1093/hmg/ddq006

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  12. Lingao MD, Ganesh A, Karthikeyan AS et al (2016) Macular cystoid spaces in patients with retinal dystrophy. Ophthalmic Genet 37:377–383. https://doi.org/10.3109/13816810.2015.1101775

    Article  CAS  PubMed  Google Scholar 

  13. Molday RS, Kellner U, Weber BHF (2012) X-linked juvenile retinoschisis: clinical diagnosis, genetic analysis, and molecular mechanisms. Prog Retin Eye Res 31:195–212. https://doi.org/10.1016/j.preteyeres.2011.12.002

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  14. Tsang SH (2007) Novel phenotypic and genotypic findings in X-linked retinoschisis. Arch Ophthalmol 125:259. https://doi.org/10.1001/archopht.125.2.259

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  15. Hu Q, Huang L, Chen X et al (2017) Genetic analysis and clinical features of X-linked retinoschisis in Chinese patients. Sci Rep 7:44060. https://doi.org/10.1038/srep44060

    Article  PubMed  PubMed Central  Google Scholar 

  16. Li X, Ma X, Tao Y (2007) Clinical features of X linked juvenile retinoschisis in Chinese families associated with novel mutations in the RS1 gene. Mol Vis 13:804–812

    CAS  PubMed  PubMed Central  Google Scholar 

  17. Khan NW, Jamison JA, Kemp JA, Sieving PA (2001) Analysis of photoreceptor function and inner retinal activity in juvenile X-linked retinoschisis. Vis Res 41:3931–3942. https://doi.org/10.1016/S0042-6989(01)00188-2

    Article  CAS  PubMed  Google Scholar 

  18. Simonelli F (2003) Clinical features of X linked juvenile retinoschisis associated with new mutations in the XLRS1 gene in Italian families. Br J Ophthalmol 87:1130–1134. https://doi.org/10.1136/bjo.87.9.1130

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  19. Sieving P, MacDonald I, Chan S (2014) X-linked juvenile retinoschisis. In: Adam MP, Ardinger HHPR et al (eds) GeneReviews® [Internet]. University of Washington, Seattle

    Google Scholar 

  20. Gregori NZ, Lam BL, Gregori G et al (2013) Wide-field spectral-domain optical coherence tomography in patients and carriers of X-linked retinoschisis. Ophthalmology 120:169–174. https://doi.org/10.1016/j.ophtha.2012.07.051

    Article  PubMed  Google Scholar 

  21. Renner AB, Kellner U, Fiebig B et al (2008) 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 116:97–109. https://doi.org/10.1007/s10633-007-9094-5

    Article  PubMed  Google Scholar 

  22. Berson EL (1981) Retinitis pigmentosa and allied diseases: applications of electroretinographic testing. Int Ophthalmol 4:7–22. https://doi.org/10.1007/BF00139576

    Article  CAS  PubMed  Google Scholar 

  23. Bowles K, Cukras C, Turriff A et al (2011) X-linked retinoschisis: RS1 mutation severity and age affect the ERG phenotype in a cohort of 68 affected male subjects. Investig Opthalmol Vis Sci 52:9250. https://doi.org/10.1167/iovs.11-8115

    Article  Google Scholar 

  24. Bradshaw K, George N, Moore A, Trump D (1999) Mutations of the XLRS1 gene cause abnormalities of photoreceptor as well as inner retinal responses of the ERG. Doc Ophthalmol 98:153–173

    Article  CAS  PubMed  Google Scholar 

  25. Peachey NS, Fishman GA, Derlacki DJ, Brigell MG (1987) Psychophysical and electroretinographic findings in X-linked juvenile retinoschisis. Arch Ophthalmol 105:513–516. https://doi.org/10.1001/archopht.1987.01060040083038

    Article  CAS  PubMed  Google Scholar 

  26. Sieving PA, Bingham EL, Kemp J et al (1999) Juvenile X-linked retinoschisis from XLRS1 Arg213Trp mutation with preservation of the electroretinogram scotopic b-wave. Am J Ophthalmol 128:179–184. https://doi.org/10.1016/S0002-9394(99)00144-0

    Article  CAS  PubMed  Google Scholar 

Download references

Acknowledgements

We would like to thank Prof. Paul Sieving for his helpful comments on this case.

Funding

The study was supported by Grants from the German Research Council (DFG Excellence Center EXC307) to EZ, and from the Tistou and Charlotte Kerstan Foundation to FN and AK.

Author information

Authors and Affiliations

  1. Institute for Ophthalmic Research, Centre for Ophthalmology, Eberhard Karls University, Elfriede-Aulhorn Strasse 7, 72076, Tübingen, Germany

    F. Nasser, S. Kohl, L. Kuehlewein, B. Wissinger, A. Kurtenbach & E. Zrenner

  2. CeGaT GmbH, Tuebingen, Germany

    C. D. Obermaier

  3. Werner Reichardt Center for Integrative Neuroscience, Eberhard Karls University, Tuebingen, Germany

    E. Zrenner

Authors
  1. F. Nasser
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. S. Kohl
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. L. Kuehlewein
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. B. Wissinger
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. C. D. Obermaier
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. A. Kurtenbach
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. E. Zrenner
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to F. Nasser.

Ethics declarations

Conflict of interest

All authors certify that they have no affiliations with or involvement in any organization or entity with any financial interest (such as honoraria; educational grants; participation in speakers’ bureaus; membership, employment, consultancies, stock ownership, or other equity interest; and expert testimony or patent-licensing arrangements), or non-financial interest (such as personal or professional relationships, affiliations, knowledge or beliefs) in the subject matter or materials discussed in this manuscript.

Statements of human rights

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Declaration of Helsinki and its later amendments or comparable ethical standards.

Statement on the welfare of animals

This article does not contain any studies with animals performed by any of the authors.

Informed consent

Informed consent was obtained from the participant included in the study.

Additional information

Publisher's Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Nasser, F., Kohl, S., Kuehlewein, L. et al. A case of X-linked retinoschisis with atypical fundus appearance. Doc Ophthalmol 139, 75–81 (2019). https://doi.org/10.1007/s10633-019-09698-3

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10633-019-09698-3

Keywords

Search

Navigation