Search Results (2)

Wagner syndrome is a rare autosomal dominant vitreoretinopathy caused by mutations in chondroitin sulphate proteoglycan 2 (CSPG2)/Versican (VCAN). Here, we present a retrospective case series of a family pedigree with genetically confirmed Wagner syndrome (heterozygous VCAN exon 8 deletion), as follows: a 34-year-old mother (P1), 12-year-old daughter (P2), and a 2-year-old son (P3). The phenotype included early-onset cataract (P1), optically empty vitreous with avascular membranes (P1, 2), nasal dragging of optic nerve heads associated with foveal hypoplasia (P1, 2), tractional retinoschisis on optical coherence tomography (P2), and peripheral circumferential vitreo-retinal interface abnormality resembling white-without-pressure (P3) progressing to pigmented chorio-retinal atrophy (P1, 2). P2 developed a macula-off retinal detachment, which was treated initially with encircling band + vitrectomy + gas, followed by vitrectomy + heavy silicone oil tamponade for re-detachment from new inferior breaks. Strong vitreo-retinal adhesion was noted intraoperatively, which prevented the separation of posterior hyaloid beyond the equator. Electroretinograms from P1&2 demonstrated attenuated b-waves, a-waves, and flicker responses in light- and dark-adapted conditions, suggestive of generalised retinal dysfunction. Our patients demonstrated the clinical spectrum of Wagner syndrome, highlighting nasal dragging with foveal disruption as a distinguishing feature from other inherited vitreoretinopathies. Surgical outcomes demonstrate significant challenges in managing vitreo-retinal traction and need for further research into strategies to prevent sight loss. Full article

Purpose: This study aimed to evaluate treatment outcomes and complications of peripheral circumferential retinal detachment (PCD) after successful vitrectomy. Methods: Eyes diagnosed with PCD after pars plana vitrectomy (PPV) were retrospectively reviewed. The patient demographic data, complications, management, and treatment outcomes were collected and analyzed. Results: The mean follow-up duration was 18.0 ± 11.9 months. BCVA ranged from light perception to 0.1 (median: counting fingers at 40 cm). Major complications included rubeosis iridis (seven eyes), vitreous hemorrhage (five eyes), hyphema (five eyes), corneal decompensation (three eyes), hypotony (two eyes), and neovascular glaucoma (two eyes). All eyes underwent peripheral retinectomy to remove the detached retina and release traction. Complete retinal reattachment was achieved in all eyes. The final BCVA ranged from hand motion to 0.1 (median: counting fingers at 30 cm). Conclusion: PCD may be associated with delayed-onset complications, causing severe loss of vision. Proper management, including peripheral retinectomy, may preserve visual function. Full article