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Related Concept Videos

Gene Therapy00:59

Gene Therapy

Gene therapy is a technique where a gene is inserted into a person’s cells to prevent or treat a serious disease. The added gene may be a healthy version of the gene that is mutated in the patient, or it could be a different gene that inactivates or compensates for the patient’s disease-causing gene. For example, in patients with severe combined immunodeficiency (SCID) due to a mutation in the gene for the enzyme adenosine deaminase, a functioning version of the gene can be inserted. The...
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...

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Related Experiment Video

Updated: Jun 12, 2026

Limbal Approach-Subretinal Injection of Viral Vectors for Gene Therapy in Mice Retinal Pigment Epithelium
06:48

Limbal Approach-Subretinal Injection of Viral Vectors for Gene Therapy in Mice Retinal Pigment Epithelium

Published on: August 7, 2015

Subretinal Gene Therapy for X-Linked Retinoschisis.

Licong Liang1, Kaiqin She1, Chengda Ren1

  • 1Department of Ophthalmology, State Key Laboratory of Biotherapy, West China Hospital, Sichuan University, Chengdu, China.

The New England Journal of Medicine
|June 10, 2026
PubMed
Summary
This summary is machine-generated.

Subretinal gene therapy using scAAV8-hRS1 showed safety and potential efficacy in X-linked retinoschisis patients. Treated eyes demonstrated improved visual acuity and retinal structure, with no severe adverse events reported.

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Area of Science:

  • Ophthalmology
  • Genetics
  • Regenerative Medicine

Background:

  • X-linked retinoschisis is a genetic retinal disease causing progressive vision loss.
  • Pathogenic variations in the RS1 gene are responsible for this condition.
  • Current treatments are limited, highlighting the need for novel therapeutic approaches.

Purpose of the Study:

  • To evaluate the safety and efficacy of subretinal gene therapy in patients with X-linked retinoschisis.
  • To assess the impact of scAAV8-hRS1 gene therapy on visual acuity and retinal structure.
  • To investigate the functional changes in photoreceptor and bipolar cells post-treatment.

Main Methods:

  • A single subretinal injection of scAAV8-hRS1 was administered to patients aged 5-18.
  • Safety was monitored for 52 weeks, with primary endpoints including adverse events.
  • Secondary endpoints included changes in best-corrected visual acuity (BCVA), retinal structure via SS-OCT, and retinal function tests.

Main Results:

  • No grade 3 or higher adverse events or ocular inflammation were reported in 12 patients.
  • Treated eyes showed a mean BCVA increase of 10.8 letters at 52 weeks.
  • SS-OCT revealed schisis cavity closure and outer retinal layer continuity in most treated eyes.

Conclusions:

  • Subretinal gene therapy with scAAV8-hRS1 is safe and warrants further investigation for X-linked retinoschisis.
  • The treatment demonstrated positive effects on visual acuity and retinal structure.
  • Continued clinical trials are recommended to confirm long-term efficacy and safety.