Spontaneous resolution of schitic cavities in XLRS

Ophthalmic Genet. 2021 Dec;42(6):765-767. doi: 10.1080/13816810.2021.1946705. Epub 2021 Jul 5.

Abstract

X-linked retinoschisis (XLRS) is an inherited retinal condition that leads to schisis of the retina. In the past, treatment trials for XLRS have generally used OCT monitoring of the schitic cavities as the primary structural outcome measure and best corrected visual acuity as the primary functional outcome. Here, we report two cases of genetically confirmed XLRS with marked fluctuations in OCT morphology in the absence of treatment. Given this demonstration of spontaneous fluctuation in retinal structure on OCT in XLRS we suggest that alternative measures of retinal function should be used in future therapeutic trials in XLRS.

Keywords: OCT; Retinoschisis; dystrophy; trials.

Publication types

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

MeSH terms

  • Child
  • Electroretinography
  • Eye Proteins / genetics*
  • Genetic Testing
  • Humans
  • Male
  • Polymorphism, Single Nucleotide / genetics*
  • Remission, Spontaneous
  • Retina / diagnostic imaging
  • Retina / physiopathology*
  • Retinoschisis / diagnostic imaging
  • Retinoschisis / genetics*
  • Retinoschisis / physiopathology*
  • Tomography, Optical Coherence
  • Visual Acuity / physiology
  • Young Adult

Substances

  • Eye Proteins
  • RS1 protein, human