Outcomes of Vitrectomy for Retinal Detachment in a Patient with Ehlers
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Lumi et al. J Med Case Reports (2021) 15:249 https://doi.org/10.1186/s13256-021-02855-w CASE REPORT Open Access Outcomes of vitrectomy for retinal detachment in a patient with Ehlers–Danlos syndrome type IV: a case report Xhevat Lumi1*, Gaber Bergant2, Anila Lumi1 and Mina Mahnic1 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 vitre- ous 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 frst 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 fat 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: Ehlers–Danlos syndrome, Vascular type, Rhegmatogenous retinal detachment, Pars plana vitrectomy, Case report Background scarring [1]. According to the Villefranche nosology, EDS Ehlers–Danlos syndrome (EDS) is a heritable heteroge- is classifed into six major groups [2]. neous group of connective tissue disorders characterized EDS type IV is characterized by changes in the vascu- by joint hypermobility, skin hyperextensibility, and tis- lar structure. Tese patients are prone to arterial, diges- sue fragility leading to signifcant bruising and atrophic tive, and obstetrical complications. Congenitally thin and fragile arterial walls lead to arterial dissection and tears, bleeding, and hematomas [3]. Although this tendency is higher in large- and medium-sized arteries, all ana- *Correspondence: [email protected] 1 Eye Hospital, University Medical Centre Ljubljana, Grablovičeva ulica 46, tomical areas can be afected [3]. It is therefore assumed 1000 Ljubljana, Slovenia that surgery for rhegmatogenous retinal detachment Full list of author information is available at the end of the article (RRD) in patients with EDS type IV has the potential © The Author(s) 2021. Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http:// creat iveco mmons. org/ licen ses/ by/4. 0/. The Creative Commons Public Domain Dedication waiver (http:// creat iveco mmons. org/ publi cdoma in/ zero/1. 0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data. Lumi et al. J Med Case Reports (2021) 15:249 Page 2 of 6 to be complicated by arterial bleeding and consecutive retinal detachment superiorly with two U-shaped retinal scarring. tears (Fig. 1). Very few reports have been published on the occur- Te patient had high myopia and had undergone pho- rence of retinal detachment in patients with EDS [4–7], torefractive keratectomy on both eyes 9 years previously. and only two of these describe a clinical case of RRD His previous refraction was − 9.50 Dsph (diopter sphere) that was managed by a pars plana vitrectomy (PPV) [6, in the right eye and − 5.50 Dsph in the left eye. Ophthal- 7]. In both of the cases described, the patients underwent moscopy of the left eye showed multiple degenerative several surgeries due to redetachment with proliferative changes on the retinal periphery. vitreoretinopathy, ultimately ending up with silicone oil Te medical history of the patient included colon per- tamponade and worse visual acuity [6, 7]. foration, muscle and arterial rupture in both lower limbs, Tere are diferent types of surgical approaches for and recurrent shoulder joint luxation, as well as sus- RRD, including pneumatic retinopexy, scleral buckling, pected EDS. His family history for connective tissue dis- and PPV [8]. Te type of surgery chosen depends on the eases was negative. Te patient underwent genetic testing complexity of the detachment, age of the patient, and the for EDS, which showed a pathogenic mutation in the surgeon’s preference. Primary PPV is indicated in com- COL3A1 gene that is associated with EDS type IV (vas- plex retinal detachments [8]. Here, we report the case cular type). Te inheritance pattern of this type of EDS is of a bullous subtotal retinal detachment and a vitreous autosomal dominant and there is typically a heterozygous hemorrhage managed by a small-gauge PPV in a patient mutation in the COL3A1 gene that encodes type III col- with EDS type IV. lagen [1]. Case presentation Variant description and interpretation A 40-year-old Slovenian man with high myopia was Whole-exome sequencing indicated the presence of a referred to the Eye Hospital, University Medical Centre pathogenic heterozygous missense variant in the COL3A1 Ljubljana, Slovenia complaining of a 2-day deterioration gene. Heterozygous variant c.1052G>T (LRG_3t1) in in the visual acuity of his right eye (OD). He described the COL3A1 gene causes substitution of the amino acid the presentation as a curtain-like dark zone in the infe- glycine with valine at position 351 in the amino acid rior part of the visual feld that progressively enlarged sequence coded by COL3A1. Te variant was previously superiorly. He denied any eye injury. established as pathogenic, in line with the correspond- On presentation, the patient’s best corrected visual ing American College of Medical Genetics and Genom- acuity (BCVA) in the right eye was 6/38 (Snellen chart) ics/Association for Molecular Pathology (ACMG/AMP) and the intraocular pressure was 10 mmHg. Slit-lamp criteria for interpretation of sequence variants, based on examination of the anterior segment revealed pigment the following. First, the variant was reported to be path- dispersion on the corneal endothelium; otherwise, the ogenic in a patient with vascular EDS (PS4_MOD) [9]. status was normal. Indirect ophthalmoscopy showed a Second, the variant afects a glycine residue in a Gly-X- vitreous hemorrhage and a macula-of subtotal bullous Y tripeptide repeat of the triple-helical region, which is a 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-of retinal detachment Lumi et al. J Med Case Reports (2021) 15:249 Page 3 of 6 well-established mechanism of pathogenicity in collagen- During the surgery, bleeding was prevented by endo- opathies (PM1) [10]. Tird, the variant was not present diathermy applied at the edges of the retinal breaks. After among approximately 141,000 controls in the gnomAD shaving the vitreous periphery, fuid/air exchange was project v2.1.1 (PM2) [11]. Tese fndings indicate a mis- done. Laser photocoagulation around the retinal tears sense variant in a gene for which missense variants are was performed under air. Te endotamponade at the end a common mechanism of disease. Fourth, with the gene was 10% perfuoropropane (C3F8) gas. Te patient was also demonstrating evolutionary intolerance for missense instructed to maintain a face-down position for a few variants (PP2) [11], multiple algorithms for theoretical days after the surgery. Immediately after the surgery, we pathogenicity predictions, including MutationTaster2 noted both a mild vitreous hemorrhage which resorbed and MetaSVM, provide a unanimously pathogenic pre- within 1 week and extensive pigment dispersion on the diction of the efects of the variant on protein function, posterior lens face which persisted for several weeks which is further supported by the location of the variant (Fig. 3). Otherwise, there were no other complications. afecting an evolutionary conserved amino acid (PP3) Te patient underwent several postoperative examina- [12, 13]. In accordance with ACMG/AMP standards and tions. At the last checkup, 8 months after