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Doc Ophthalmol. 2019 Apr 20. doi: 10.1007/s10633-019-09698-3. [Epub ahead of print]

A case of X-linked retinoschisis with atypical fundus appearance.

Author information

1
Institute for Ophthalmic Research, Centre for Ophthalmology, Eberhard Karls University, Elfriede-Aulhorn Strasse 7, 72076, Tübingen, Germany. fadi.nasser@med.uni-tuebingen.de.
2
Institute for Ophthalmic Research, Centre for Ophthalmology, Eberhard Karls University, Elfriede-Aulhorn Strasse 7, 72076, Tübingen, Germany.
3
CeGaT GmbH, Tuebingen, Germany.
4
Werner Reichardt Center for Integrative Neuroscience, Eberhard Karls University, Tuebingen, Germany.

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.

KEYWORDS:

Electroretinography; RS1; Retinoschisis

PMID:
31006083
DOI:
10.1007/s10633-019-09698-3

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