Pars Plana Vitrectomy in Inherited Retinal Diseases: A Comprehensive Review of the Literature

Abstract

Inherited retinal diseases (IRDs) are a group of clinically and genetically heterogeneous disorders that may be complicated by several vitreoretinal conditions requiring a surgical approach. Pars plana vitrectomy (PPV) stands as a valuable treatment option in these cases, but its application in eyes with such severely impaired chorioretinal architectures remains controversial. Furthermore, the spreading of gene therapy and the increasing use of retinal prostheses will end up in a marked increase in demand for PPV surgery for IRD patients. The retinal degeneration that typically affects patients with hereditary retinal disorders may influence the execution of the surgery and the expected results. Considering the importance of PPV application in IRD-related complications, it is fundamental to try to understand from the literature what is adequate and safe in posterior eye segment surgery. Use of dyes, light toxicity, and risk of wounding scar development have always been themes that discourage the execution of vitreoretinal surgery in already impaired eyes. Therefore, this review aims to comprehensively summarize all PPV applications in different IRDs, highlighting the favorable results as well as the potential precautions to consider when performing vitreoretinal surgery in these eyes.

Keywords: Stargardt disease; X-linked retinoschisis; best disease; choroideremia; familiar exudative vitreoretinopathy; pars plana vitrectomy; retinitis pigmentosa.

Figure 1

Multimodal imaging of a 40-year-old patient with genetically confirmed Stargardt disease (SGD) and full-thickness macular hole (FTMH). (A): True color 55° fundus picture showing the macular pre-retinal hyper-reflective band with a central macular hole. (B) Blue-light 55° autofluorescence displaying a central foveal hypo-autofluorescence surrounded by a hyper/iso-autofluorescent ring. (C) Spectral-domain optical coherence tomography (SD-OCT) scan showing a FTMH with a maximum diameter of 435 μm (D) Two-year follow-up tracked-SD-OCT displaying no progression of the FTMH with a maximum diameter of 432 μm.

Figure 2

Representative case of an 11-year-old child with an RPE65 mutation receiving a subretinal injection of Voretigene Neparvovec-rzyl (Luxturna) vector carrying a copy of the RPE65 gene. (A) Following core vitreous removal, the strongly adherent posterior hyaloid membrane is visualized with triamcinolone acetonide (TA) injection and detached with a Charles cannula. Intraoperative optical coherence tomography (OCT) shows hyperreflective TA crystals on the retinal surface. (B) A 41-gauge cannula enters the retina along the superior temporal vascular arcade. The fluid injection underneath the retina determines a small, localized RD, which can be efficiently visualized with intraoperative OCT. (C) The localized RD enlarges, reaching the macula. The subretinal fluid is progressively injected under the guidance of the intraoperative OCT until the desired amount of fluid is delivered.