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Documenta Ophthalmologica

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01-08-2019 | Night-Blindness | Clinical Case Report

A case of X-linked retinoschisis with atypical fundus appearance

Authors: F. Nasser, S. Kohl, L. Kuehlewein, B. Wissinger, C. D. Obermaier, A. Kurtenbach, E. Zrenner

Published in: Documenta Ophthalmologica | Issue 1/2019

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.

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Title: A case of X-linked retinoschisis with atypical fundus appearance
Authors: F. Nasser
S. Kohl
L. Kuehlewein
B. Wissinger
C. D. Obermaier
A. Kurtenbach
E. Zrenner
Publication date: 01-08-2019
Publisher: Springer Berlin Heidelberg
Keywords: Night-Blindness
Pigmentary Retinopathy
Published in: Documenta Ophthalmologica / Issue 1/2019
Print ISSN: 0012-4486
Electronic ISSN: 1573-2622
DOI: https://doi.org/10.1007/s10633-019-09698-3

At a glance: The STEP trials

Springer Medicine

A case of X-linked retinoschisis with atypical fundus appearance

Abstract

Purpose

Methods

Results

Conclusion

At a glance: The STEP trials

Springer Medicine

Abstract

Purpose

Methods

Results

Conclusion

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