A 17-year-old boy, previously diagnosed with familial exudative vitreoretinopathy (FEVR) due to LRP5 mutation, complained of left eye decreased vision. Serial imaging by optical coherence tomography showed vitreomacular traction that progressed to lamellar macular hole (MH), and further evolved to full-thickness MH 3 weeks later. Visual acuity (VA) was 20/200. Pars plana vitrectomy with encircling buckle, internal limiting membrane peeling, and gas tamponade were performed. Three months postoperatively, VA had increased to 20/25 and the MH remained closed. This case illustrates how vitreomacular interface disorders may complicate FEVR, as exemplified for the first time in a case with LRP5 mutation.
[Ophthalmic Surg Lasers Imaging Retina. 2019;50:e49–e51.]
Familial exudative vitreoretinopathy (FEVR) is a bilateral hereditary disorder characterized by incomplete retinal angiogenesis and peripheral nonperfusion.1 Clinical presentation is highly variable and includes retinal neovascularization, exudation, fibrosis, dragging of the macula and retinal vessels toward the temporal region, and tractional retinal detachment. Causal mutations in five genes have been identified: NDP, FZD4, LRP5, TSPAN12, and ZNF408.2 The association between FEVR and macular hole (MH) was first described in 2007.3 A second case has been recently reported in a patient presenting with two mutations in FZD4.4
Here, we report for the first time the development of a MH followed by serial retinal imaging in an adolescent with FEVR and LRP5 mutation.
A 17-year-old boy complained of recent decrease in vision in his left eye. He had been diagnosed with FEVR and compound heterozygous mutation in the LRP5 gene (p.[D381N] and p.[A1330V; D1356N]) 4 years earlier. The patient had suffered from total tractional retinal detachment (RD) requiring multiple vitreoretinal surgeries in his right eye. The last-recorded visual acuity (VA) 3 months earlier was 20/100 in the right eye and 20/50 in the left eye. Ophthalmological examination confirmed a decrease in VA in his left eye to 20/63. Fundus examination was similar to the last-recorded examination, showing temporal dragging of retinal vessels, peripheral exudation, and vitreoretinal tractions without RD (Figure 1A). Spectral-domain optical coherence tomography (SD-OCT) showed vitreomacular traction with intraretinal cysts. Central macular thickness (CMT) was 283 μm (Figure 2A). Conservative management by observation was adopted. Upon re-evaluation 15 days later, SD-OCT revealed the progression to a lamellar MH (Figure 2B). A surgical procedure with an encircling buckle was indicated in order to relax vitreoretinal tractions and eventually prevent further aggravation to full-thickness MH (FTMH) or tractional retinal detachment. However, 1 week later (before the surgery could be performed) the patient came to our emergency department complaining of acute metamorphopsia. VA had dropped to 20/200. SD-OCT revealed a FTMH (Figure 2C). Surgical management by 23-gauge pars plana vitrectomy with associated encircling buckle was indicated. Posterior vitreous detachment was induced, internal limiting membrane (ILM) was peeled after staining with brilliant blue G, and SF6 was used as gas tamponade. The patient was encouraged to maintain face-down positioning for 6 days. Three months postoperatively, VA had increased to 20/25. SD-OCT demonstrated the sustained closure of the MH, with associated thinning of the neurosensory retina (CMT, 166 μm), as illustrated in Figure 1B and Figure 2D.
Widefield color fundus photograph of the left eye before (A) and after (B) 23-gauge pars plana vitrectomy with encircling scleral buckle in a 17-year-old boy with familial exudative vitreoretinopathy. Temporal dragging of retinal vessels, intense peripheral exudation, and vitreoretinal tractions (yellow arrow head) were present before surgery (A). Peripheral indentation (white arrow head) and resolution of vitreoretinal tractions (yellow arrow head) are noted after surgery (B).
Development of a full-thickness macular hole (FTMH) followed by serial spectral-domain optical coherence topography (SD-OCT) imaging in a 17-year-old boy with familial exudative vitreoretinopathy. (A) Vitreomacular traction with intraretinal cysts. (B) Fifteen days later, formation of a lamellar macular hole (MH). (C) Seven days later, development of a FTMH. (D) Three months after surgical management (by 23-gauge pars plana vitrectomy, internal limiting membrane peeling, SF6 gas tamponade and encircling scleral buckle), SD-OCT showed closure of the MH with associated thinning of the neurosensory retina.
This report describes the development of FTMH in a patient with FEVR due to LRP5 mutation. FEVR was first described in 1969 by Criswick and Schepens.1 The association of FEVR and FTMH was reported by Khwarg et al.3 in 2007. However, genetic testing was not performed, and surgical management was not attempted until the occurrence of tractional retinal detachment 1 year later. More recently, Bochiccio et al.4 reported the development of FTMH in a patient with FEVR carrying a FDZ4 mutation. The patient initially presented with vitreomacular traction and lamellar MH. A FTMH developed 18 months later. The authors did not indicate surgery at the stage of the lamellar hole but performed 25-gauge vitrectomy with peeling and gas tamponade once the FTMH had developed. In the present case, the patient also progressed from lamellar to FTMH, but this progression was much quicker, within a few days. At the stage of lamellar MH, we discourage vitrectomy, but we had indicated an encircling buckle in order to prevent additional tractions and their possible complications (such as FTMH or tractional retinal detachment). Unfortunately, the patient came back with FTMH before the planned procedure could be performed. Whether an encircling buckle would have efficiently prevented this progression remains to be determined. Similarly, whether prophylactic vitrectomy with ILM peeling should be indicated earlier, at the stage of vitreomacular traction or lamellar hole in patients with FEVR, is subject to debate. Other vitreomacular interface disorders have been described in patients with FEVR, such as perifoveal posterior vitreous detachment with small deposits described by Shimouchi et al. as rod-shaped attachments at the macular surface visible on SD-OCT.5 Close follow-up of the vitreomacular interface by SD-OCT in patients with FEVR should be routinely performed in order to assess possible complications.
- Criswick VG, Schepens CL. Familial exudative vitreoretinopathy. Am J Ophthalmol. 1969;68(4):578–594. doi:10.1016/0002-9394(69)91237-9 [CrossRef]
- Gilmour DF. Familial exudative vitreoretinopathy and related retinopathies. Eye (Lond). 2015;29(1):1–14. doi:10.1038/eye.2014.70 [CrossRef]
- Khwarg JW, Bourla D, Gonzales CA, Schwartz SD. Familial exudative vitreoretinopathy and macular hole exhibited in same individual. Semin Ophthalmol. 2007;22(2):85–86. doi:10.1080/08820530701418441 [CrossRef]
- Bochicchio S, Pellegrini M, Cereda M, Oldani M, Staurenghi G. Macular hole in a young patient affected by familial exudative vitreoretinopathy. Retin Cases Brief Rep. 2017. doi:. [Epub ahead of print] doi:10.1097/ICB.0000000000000613 [CrossRef]
- Shimouchi A, Takahashi A, Nagaoka T, Ishibazawa A, Yoshida A. Vitreomacular interface in patients with familial exudative vitreoretinopathy. Int Ophthalmol. 2013;33(6):711–715. doi:10.1007/s10792-012-9707-1 [CrossRef]