Downloaded from http://bjo.bmj.com/ on August 21, 2017 - Published by group.bmj.com Clinical science Anatomical and functional outcomes following vitrectomy for advanced familial exudative vitreoretinopathy: a single surgeon’s experience Mumin Hocaoglu, Murat Karacorlu, Isil Sayman Muslubas, Mehmet Giray Ersoz, Serra Arf Istanbul Retina Institute, ABSTRACT areas of avascularity and degeneration in the per- Istanbul, Turkey Purpose To assess the anatomical and functional ipheral retina. An increase in posterior retinal results of vitreoretinal surgery in patients with advanced vessels in mild asymptomatic FEVR has been Correspondence to familial exudative vitreoretinopathy (FEVR). reported recently.7 On the other hand, in moderate Professor Murat Karacorlu, fi FEBO, İstanbul RETINA Methods Retrospective analysis of data for 10 eyes of 9 to severe cases, preretinal brovascular proliferation Enstitüsü, Hakkı Yeten Cad. patients with advanced FEVR who underwent pars plana between the vascular and avascular retina can cause Unimed Center No: 19/7, vitrectomy from March 1997 to May 2015 and had a traction of the macula and retinal vessels, leading Fulya—Şişli, Istanbul 34349, follow-up of at least 12 months. The primary outcomes to radial retinal folds and retinal detachment (RD). Turkey; fi mkaracorlu@ superonline. com were nal visual acuity (VA) and anatomical success. Development of RD (tractional, rhegmatogenous Results The average age at the time of the surgery or serous) is common in FEVR disease and may Received 17 August 2016 was 10.1±6.5 years (range 2 months–18 years). The cause serious visual impairment. The natural course Revised 5 October 2016 mean follow-up period was 58.4±75.1 months. The of congenital retinal folds in 147 eyes with FEVR Accepted 9 October 2016 male-to-female ratio was 7/2. The mean number of showed progression to tractional RD (TRD) in Published Online First fi 28 October 2016 vitreoretinal operations was 1.5. At the last visit, 7 12.9%, rhegmatogenous RD (RRD) in 8.2%, bro- (70%) eyes had complete or partial retinal attachment. vascular proliferation in 7.5%, and exudative RD Preoperatively, the mean Snellen VA was 20/4000 (n=8), in 1.4%.8 Other, less common, findings include and in the remaining 2 (20%) eyes it was recorded as retinal exudation, neovascularisation, vitreous ‘central, steady and maintained’.Atfinal examination, haemorrhage, secondary epiretinal membrane the mean Snellen VA was 20/330 (n=7), and in the (ERM), peripheral retinoschisis, secondary glau- remaining 3 (30%) eyes it was recorded as light coma, and cataract.2910Taking into consideration perception. At the final visit, 5 eyes (50%) had improved the broad clinical spectrum of the disorder, appro- VA, 2 eyes (20%) showed stabilisation, and 3 eyes priate initiation of treatment may lead to an (30%) with total retinal detachment had a decrease in improved clinical outcome. Over time, the under- VA. No progression to glaucoma was observed and no standing of the disease and its variations has enucleation was necessary. increased. Despite recent advances, the pathophysi- Conclusions Advanced FEVR in young children tends ology is still not completely understood, and man- to be more aggressive, leading to severe complications. agement approaches to this condition remain These cases are challenging and require special uncertain and controversial. Few studies have consideration. Despite surgery, disease-related reported results after surgery for FEVR-associated – complications remain high. However, surgical RD.91117 The surgical approaches in these reports intervention for advanced FEVR might be of benefitin have included pars plana vitrectomy (PPV), scleral helping to preserve vision. buckling, or a combination of both. In this study, we report the experience of a single surgeon in the management FEVR-associated RD using PPV. INTRODUCTION Familial exudative vitreoretinopathy (FEVR) is a PATIENTS AND METHODS rare inherited disorder that was first described by Population Criswick and Schepens in 1969.1 It has been sug- A retrospective chart review of 10 eyes of nine gested that FEVR is a disorder of angiogenesis in patients who underwent vitreoretinal surgery from which the primary vascular plexus develops nor- March 1997 to May 2015 with a diagnosis of mally but the secondary capillary layers in the deep FEVR-associated RD was conducted at the Istanbul and peripheral retina are absent or abnormal.2 Retina Institute, Istanbul. The study protocol was Incomplete vascularisation and poor vascular dif- approved by the Ethics Committee of Sisli ferentiation in these cases leads to an avascular per- Memorial Hospital, Istanbul. The study was per- ipheral retina. Mutations in the NDP, FZD4, LRP5, formed in accordance with the tenets of the TSPAN1 and ZNF408 genes have been associated Declaration of Helsinki. – with FEVR disease.3 5 It can be inherited in an The clinical charts were reviewed to collect the autosomal dominant, autosomal recessive, or following data: family and medical history, systemic To cite: Hocaoglu M, X-linked manner, or can affect individuals with no disorders, neonatal characteristics, sex, age, previ- Karacorlu M, Sayman family history. Expressivity may be asymmetric and ous treatment procedures, clinical characteristics of Muslubas I, et al. is highly variable.6 The development of secondary FEVR disease, timing of surgery, intraoperative pro- Br J Ophthalmol complications is associated with the degree of cedures, number of operations, postoperative com- 2017;101:946–950. ischaemia. Mild FEVR cases are characterised by plications, follow-up duration, intraocular pressure, 946 Hocaoglu M, et al. Br J Ophthalmol 2017;101:946–950. doi:10.1136/bjophthalmol-2016-309526 Downloaded from http://bjo.bmj.com/ on August 21, 2017 - Published by group.bmj.com Clinical science slit-lamp biomicroscopy findings, indirect ophthalmoscopy find- then yearly. All the patients were closely followed up at our ings, and visual acuity (VA). Fundus photography (Carl Zeiss, institution, and anisometropia was managed by correction with Inc, Jena, Germany) was performed in cooperative patients. either contact lenses or spectacles. Diagnosis was based on a combination of physical examin- VA measurements were performed by an ophthalmic specialist ation and/or fundus photography, birth and family history. using the Tumbling E or Early Treatment Diabetic Retinopathy Clinical staging of FEVR was determined according to the clas- Study (ETDRS) charts. Following a standardised protocol, the sification scheme previously proposed.11 Before surgery, other ETDRS charts were used with a maximum distance of 4 m, but forms of exudative retinopathy (Norrie disease, persistent fetal the distance was reduced to 1 m or to 0.5 m if needed to permit vasculature, retinopathy of prematurity) had been excluded. letter identification in an eye with poor vision. VA testing was not performed if vision was limited to light perception or Surgery worse, or if the child was unable to cooperate in VA testing (the Indications for PPV surgery were RRD or TRD extending chart-measured vision was ‘fixes and follows’ or towards the posterior pole or circumferentially over two or ‘central-steady-maintained’). more quadrants, for which condition scleral buckling is ineffect- ive. All surgical procedures were planned and performed by the RESULTS same surgeon (MK). All the operations were performed under Baseline characteristics general anaesthesia. The surgical procedures included standard Of the nine patients included, seven were male (78%) and two 3-port, 20- or 23-gauge lens-sparing vitrectomy (LSV) or len- were female (22%). Overall, the mean±SD gestational age at sectomy and vitrectomy (LV). After the standard conjunctival birth was 38.3±1.7 weeks (range 36–41 weeks), the mean birth opening, incisions were made 1.0–3.5 mm posterior to the weight was 3148±436 g (range 2750–4800 g), the mean age at corneal limbus, the distance depending on the age of the diagnosis was 6.0±4.6 years (range 1 month–14 years), the patient. A lensectomy was performed if the fibrovascular prolif- mean age at the time of surgery was 10.1±6.5 years (range eration was attached extensively to the posterior lens surface, if 2 months–18 years), and the mean follow-up period was 58.4 the lens was found to impede adequate management of periph- ±75.1 months (range 12–216 months). One patient (11%) eral vitreous and fibrovascular structures, or if there was an iat- underwent bilateral surgery. The mean preoperative logMAR VA rogenic injury. A core vitrectomy was performed with a cutting for the eight eyes (80%) with measurable VA was 2.3±0.7 rate of up to 2500/min using the Associate 2500 vitrectomy (Snellen equivalent 20/4000), ranging from 20/100 to 20/ system (DORC, Zuidland, Netherlands). After removal of the 20 000. The remaining two children (two eyes) were unable to anterior and core vitreous, 0.2–0.3 mL (40 mg/mL) triamcino- cooperate in the testing for VA, and the chart-measured vision lone acetonide aqueous suspension (Kenacort, Bristol-Myers was ‘central-steady-maintained’. The baseline characteristics of Squibb, New York, New York, USA) was injected into the mid- the patients are listed in the table 1. vitreous cavity for visualisation of the residual vitreous and pos- The most common referring diagnoses were FEVR (five terior hyaloid membrane, followed by partial or complete patients), RD (three patients), and macular hole (one patient). A removal of the posterior hyaloid. The vitreous was removed family history for FEVR was obtained for two patients (22%). extensively, especially around the fibrovascular proliferation and One patient had a family history of strabismus and decreased posterior vitreous base. Dissection of the fibrovascular tissues, vision of unknown cause. Stage 3 FEVR was identified in four tightly adhered to the retina and/or ciliary body, was minimised (40%) eyes, stage 4 in four (40%) eyes, and stage 5 in two in order to avoid a possible iatrogenic retinal tear or large (20%) eyes (figure 1).