---Pars plana vitrectomy in congenital X-linked retinoschisis: a scoping review.

Purpose

Congenital X-linked retinoschisis (XLRS) has limited treatment options. Gene augmentation via pars plana vitrectomy (PPV) and subretinal RS1 gene delivery is promising, yet it is unclear how PPV may impact outcomes. We explored literature to better understand PPV outcomes in XLRS.

Methods

A scoping review of PPV in XLRS categorized studies based on surgical indication: PPV for foveal schisis (Category 1) and PPV for other XLRS sequelae, such as retinal detachment (RD) (Category 2). Studies were excluded if they did not report visual and anatomic outcomes, including foveal schisis status on pre- and postoperative optical coherence tomography (Category 1); and retinal reattachment status (Category 2). Minimum required follow up was 3 months.

Results

There were 25 included studies, with 24 eyes from 7 studies in category 1, and 89 eyes from 18 studies in category 2. In Category 1, the mean (± SD) age was 12.7 (± 7.0) years, and mean follow-up duration was 25.5 (± 18.2) months. 79% of eyes underwent internal limiting membrane peeling. Mean preoperative logMAR visual acuity (VA) was 1.1 (± 0.5) (Snellen equivalent, ~20/250, N = 22), improving to 0.6 (± 0.3) (Snellen equivalent, ~20/80, N = 24) at the final visit (p = 0.0002). Foveal schisis improved in 92% of eyes, with no reported complications. In Category 2, mean age was 10.8 (± 10.5) years, with follow-up (reported for 80 eyes) of 36.2 (± 26.1) months. Surgical indications included RD (80.9%), vitreous hemorrhage (7.9%), and macular hole or pucker (6.7%) among others. For eyes with RD (N = 72), single surgery anatomic success was reported for 63 and was 65%; final reattachment rate was 90.2%, and 56% showed VA improvement. For eyes which underwent PPV for complications other than RD (N = 17), 76.5% showed VA improvement. Complications included cataract (19%), macular fold (2.2%), neovascular glaucoma and subsequent enucleation (2.2%), and new RD (1.1%).

Conclusions

Vitrectomy may improve schisis cavity volume in XLRS, with a tolerable safety profile observed in a small number of studies. However, the relatively low single-surgery success rate for XLRS-RD highlights the complex anatomy in these eyes. These findings should be considered when assessing anatomic outcomes from novel therapies that require PPV, including subretinal gene therapy.

Key messages: WHAT IS ALREADY KNOWN : Congenital X-linked retinoschisis (XLRS) is an inherited vitreoretinal degeneration with limited treatment options. Intravitreal RS1 gene therapy has shown limited success; subretinal delivery via pars plana vitrectomy (PPV) is currently under investigation.

What this study adds: Synthesizes the existing literature on PPV alone in XLRS, finding that vitrectomy alone may improve schisis cavity volume and visual acuity in XLRS Provides a biomechanical rationale for PPV in XLRS Highlights the need for careful interpretation of uncontrolled studies of novel therapies that require PPV for drug delivery.