Outcomes of vitrectomy for retinal detachment in a patient with Ehlers-Danlos syndrome type IV: a case report

Abstract

Background: The Ehlers-Danlos syndrome (EDS) is a group of connective tissue disorders characterized by fragile blood vessels and an increased tendency for bleeding and scarring. Here, we report the outcome of a pars plana vitrectomy for the treatment of rhegmatogenous retinal detachment in a patient with EDS type IV (vascular type).

Case presentation: A 40-year-old Slovenian man with high myopia, unilateral bullous retinal detachment, and vitreous hemorrhage was referred for surgery. The patient had a history of colon perforation, muscle and arterial rupture in both lower limbs, and recurrent shoulder joint luxations. Genetic testing revealed a pathogenic mutation in the COL3A1 gene. The patient underwent a 25-gauge three-port pars plana vitrectomy. The tendency for bleeding during surgery was prevented by endodiathermy applied to the edges of the retinal breaks. Endolaser photocoagulation was performed under air. The surgical procedure was completed with the injection of gas tamponade, followed by the patient remaining for a few days in a face-down position. Mild postoperative vitreous hemorrhage was resorbed in first week after the surgery. Postoperative extensive pigment dispersion on the posterior lens face persisted for several weeks. After the gas tamponade had resorbed, the retina was flat and remained attached during the follow-up period. Eight months after the surgery, visual acuity continued to improve from a preoperative 6/38 to 6/6.6 (Snellen chart) at the last checkup.

Conclusion: A small-gauge pars plana vitrectomy with gas tamponade and laser photocoagulation under air may successfully achieve reattachment of the retina in patients with high myopia with EDS type IV and restore visual acuity.

Keywords: Case report; Ehlers–Danlos syndrome; Pars plana vitrectomy; Rhegmatogenous retinal detachment; Vascular type.

Fig. 1

Left: Color fundus photograph of the right eye shows bullous retinal detachment with mild vitreous hemorrhage. Right: Optical coherence tomography (OCT) scan demonstrates macula-off retinal detachment

Fig. 2

Screenshots of the intraoperative video taken during the vitrectomy of the right eye, demonstrating several retinal breaks in four quadrants at the retinal periphery. a Two breaks at 12 o’clock, b breaks at 9 o’clock, c breaks at 3 o’clock, d breaks at 7 o’clock

Fig. 3

Postoperative slit lamp photograph of the anterior segment of the right eye showing extensive pigment dispersion on the posterior lens face

Fig. 4

Left: postoperative color fundus photograph of the right eye showing flat retina; right: optical coherence tomography scan of the macular area demonstrating restored retinal layers