X-linked peripheral retinoschisis without macular involvement: a case series with RS1 genetic confirmation

Logan M. Smith, Linda A. Cernichiaro-Espinosa, Craig A. McKeown, Mustafa Tekin, Byron L. Lam, John Chiang, Jonathan F. Russell, Audina M. Berrocal

Research output: Contribution to journalArticle

Abstract

Background: Juvenile X-linked Retinoschisis (JXLRS) is a hereditary retinopathy that commonly presents with macular retinoschisis. In this study, we describe a group of patients who presented with peripheral retinoschisis with no macular schisis. Materials and Methods: A retrospective case series of three JXLRS patients with genetically confirmed RS1 genotypes was identified. Presence of macular and/or peripheral retinoschisis as assessed by optical coherence tomography (OCT), wide-field fluorescein angiography, clinical ophthalmoscopy, and color fundus photography. Results: The eyes of the three JXLRS patients with peripheral retinoschisis had no macular schisis or atrophy on OCT. ERG was available in one patient and showed no reduced b-waves on scotopic combined rod-cone response. Conclusions: RS1 mutations can cause a macular-sparing JXLRS phenotype. The diagnosis of JXLRS should be considered for young males presenting with peripheral retinoschisis even if there is no evidence of macular schisis.

Original languageEnglish (US)
JournalOphthalmic Genetics
DOIs
StateAccepted/In press - Jan 1 2020

Keywords

  • case series
  • novel mutation
  • peripheral retinoschisis
  • Retinoschisis

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Ophthalmology
  • Genetics(clinical)

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    Smith, L. M., Cernichiaro-Espinosa, L. A., McKeown, C. A., Tekin, M., Lam, B. L., Chiang, J., Russell, J. F., & Berrocal, A. M. (Accepted/In press). X-linked peripheral retinoschisis without macular involvement: a case series with RS1 genetic confirmation. Ophthalmic Genetics. https://doi.org/10.1080/13816810.2020.1723115