A case of X-linked retinoschisis with atypical fundus appearance

Doc Ophthalmol. 2019 Aug;139(1):75-81. doi: 10.1007/s10633-019-09698-3. Epub 2019 Apr 20.


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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Electroretinography
  • Eye Proteins / genetics*
  • Fluorescein Angiography
  • Fundus Oculi
  • Humans
  • Male
  • Middle Aged
  • Mutation, Missense*
  • Ophthalmoscopy
  • Photoreceptor Cells, Vertebrate / physiology*
  • Retinitis Pigmentosa / diagnosis*
  • Retinitis Pigmentosa / physiopathology
  • Retinoschisis / diagnosis*
  • Retinoschisis / genetics*
  • Retinoschisis / physiopathology
  • Tomography, Optical Coherence
  • Visual Acuity / physiology
  • Visual Field Tests
  • Visual Fields / physiology


  • Eye Proteins
  • RS1 protein, human