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X-Linked Retinoschisis.

Cristy A Ku1, Lisa W Wei2, Paul A Sieving3

  • 1Department of Ophthalmology & Vision Science, University of California Davis, Sacramento, California 95817, USA.

Cold Spring Harbor Perspectives in Medicine
|January 23, 2023
PubMed
Summary
This summary is machine-generated.

X-linked retinoschisis (XLRS) is an inherited eye disease affecting males. Gene therapy research shows promise, with ongoing efforts to develop enhanced treatments for XLRS patients.

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Area of Science:

  • Ophthalmology
  • Genetics
  • Molecular Biology

Background:

  • X-linked retinoschisis (XLRS) is a genetic retinal disorder causing vision loss in males.
  • Characterized by intraretinal cysts and an electronegative electroretinogram (ERG) response.
  • Caused by mutations in the RS1 gene, affecting retinoschisin protein function.

Purpose of the Study:

  • To review the current understanding of XLRS, including its clinical and molecular basis.
  • To discuss the development and outcomes of gene augmentation therapy for XLRS.
  • To highlight the future directions for enhanced gene therapy in XLRS patients.

Main Methods:

  • Review of historical clinical observations and diagnostic criteria for XLRS.
  • Analysis of genetic studies identifying the RS1 gene and its role.
  • Evaluation of preclinical studies in XLRS murine models.
  • Assessment of outcomes from human phase I/II gene augmentation trials.

Main Results:

  • RS1 gene identification elucidated the molecular basis of XLRS.
  • Gene augmentation therapy successfully rescued the XLRS phenotype in mouse models.
  • Initial human trials provided valuable experience but did not show definitive visual improvement.

Conclusions:

  • XLRS gene therapy has progressed from preclinical models to human trials.
  • Despite challenges, past trials have paved the way for next-generation therapeutic approaches.
  • Further development of enhanced gene therapy holds promise for treating XLRS patients.