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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
Summary
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.
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.
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