Familial exudative vitreoretinopathy (FEVR) is an uncommon inherited vitreoretinal dystrophy which is progressive in nature and needs to be differentiated from retinopathy of prematurity (ROP) which is characteristically seen in preterm babies and is regressive. It is characterized by peripheral avascular retina with subsequent angiogenesis, intra and subretinal exudation, macular and disc dragging, and tractional retinal detachment. Manifestation of disease may be asymmetrical in the same individual, to the best of our knowledge, the association between macular hole retinal detachment (MHRD) and FEVR has so far not been reported. Previously, there have been four case reports on the existence of full-thickness macular hole (FTMH) without retinal detachment in the case of FEVR.
A 24-year-old male came with a diminution of vision in his left eye of recent onset. He gave a history of undergoing cataract extraction with lens implantation in the right eye, at 10 years of age, following trauma and had light perception in the right eye before and after surgery. The patient also gave a history of laser treatment to the left eye. He was born full term, with no consanguinity between parents and an unremarkable family history.
On presentation, vision in the right eye was only perception of light, and left eye visual acuity (VA) was 20/60. Anterior segment examination of the right eye revealed pseudophakia with occlusion pupillae and a normal anterior segment in the left eye. The left eye was exotropic. Retinal examinations revealed left eye dragging of disc with a thick traction band extending from disc to the inferotemporal periphery with old laser marks seen in the area of the avascular retina along with minimal vitreous hemorrhage with thick condensed vitreous. A diagnosis of FEVR stage 2 was made in the left eye and he underwent further peripheral laser photocoagulation to the avascular area. He maintained a stable vision for 3 years with a small subfoveal detachment noted in the follow-up visit with a VA of 20/60 which later showed an epiretinal membrane with the resolution of foveal detachment [Figure 1]. He remained stable for 15 months until he presented again with a sudden drop in VA to 20/200 in his left eye. Retinal examinations showed dragged disc and traction rhegmatogenous detachment with FTMH along with thick vitreous membranes (FEVR Stage 4 with FTMH). The presence of an MHRD was confirmed on optical coherence tomography B scan imaging [Figure 2].
The patient underwent lens-sparing pars plana vitrectomy, internal limiting membrane peel, endolaser, and 1000 cs silicone oil tamponade for the left eye. Two weeks postsurgery, the macular hole had closed and the retina was attached under silicone oil. At 3 months, the best-corrected VA (BCVA) left was 20/600 and the retina remained attached under oil. He underwent an uneventful silicone oil removal after 3 and ½ months. At 2 months follow-up, postoil removal, the retina has remained attached with a BCVA of 20/120 [Figure 3].
FEVR is a rare entity with varied manifestations. The inheritance, expressivity, penetrance, and manifestation of FEVR are highly variable and the presence of family history strengthens the diagnosis but absence does not rule out FEVR. The common retinal manifestations are a radial fold with exudates, disc dragging, and tractional retinal detachment. Peripheral avascularity with leaking retinal vessels and exudation at the posterior border may appear similar to other retinal vascular diseases such as ROP. The falciform fold seen may be confused with the stalk seen in persistent fetal vasculature and needs to be ruled out. These characteristic retinal folds were first described by Criswick and Schepens in 1969 in their paper on FEVR.
FEVR is progressive in nature and can be complicated with traction retinal detachment and/or rhegmatogenous retinal detachment. In a single surgeon’s experience of 10 eyes of nine patients with FEVR, he reported that all patients had advanced FEVR and one had a macular hole also. All patients underwent vitrectomy and the retinal reattachment achieved by the surgeon was 70%, with a mean of 1.5 vitreoretinal surgical procedures. In 2007, a 9 years old was reported as having a case of FEVR with an FTMH by Khwarg et al. The patient underwent a vitrectomy and had a stable attached retina postoperatively. In another case reported by Bochicchio et al. in 2020, the patient had OU FEVR- Both eyes FEVER (Familial exudative vitreoretinopathy) Stage 2 along with a lamellar macular hole in one eye which progressed to an FTMH after 18 months and the patient underwent a vitrectomy. In 2018, Kimura et al. reported a case of an impending macular hole in a patient which progressed to an FTMH over a few months and underwent vitrectomy for same. In his case, the factors contributing to the development of FTMH were the vitreous changes and the development of Epiretinal Membrane (ERM). In our case, the left eye progressed from stage 2 to stage 4 in spite of laser photocoagulation, considering the nature of disease. The patient had a tractional rhegmatogenous detachment with a macular hole and he underwent lens-sparing vitrectomy; as proposed by Yamane et al., lens-sparing vitrectomy is essential for the stabilization of fibrovascular proliferation and reattachment. In our case, we followed this concept and chose lens-sparing vitrectomy. Regular follow-up and prompt treatment in the form of laser photocoagulation and surgery when indicated can help restore vision in FEVR cases. Differentiating it from the close differentials of Coats’ disease and ROP is vital when the case presents early with more exudation.
Through this case, we wanted to show that the presentation of FEVR can range from just the avascular retina to having a tractional rhegmatogenous detachment due to a macular hole. Prompt surgery can help restore ambulatory vision in such cases which have progressed over years to reach stage 4 disease.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form, the legal guardian has given his consent for images and other clinical information to be reported in the journal. The guardian understands that names and initials will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
1. Ranchod TM, Ho LY, Drenser KA, Capone A Jr, Trese MT. Clinical presentation of familial exudative vitreoretinopathy. Ophthalmology 2011;118:2070–5.
2. Criswick VG, Schepens CL. Familial exudative vitreoretinopathy. Am J Ophthalmol 1969;68:578–94.
3. Hocaoglu M, Karacorlu M, Sayman Muslubas I, Ersoz MG, Arf S. Anatomical and functional outcomes following vitrectomy for advanced familial exudative vitreoretinopathy:A single surgeon's experience. Br J Ophthalmol 2017;101:946–50.
4. Khwarg JW, Bourla D, Gonzales CA, Schwartz SD. Familial exudative vitreoretinopathy and macular hole exhibited in same individual. Semin Ophthalmol 2007;22:85–6.
5. 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 2020;14:6–9.
6. Kimura D, Kobayashi T, Maruyama E, Oosuka S, Kohmoto R, Fukumoto M, et al. Familial exudative vitreoretinopathy complicated with full thickness macular hole:A case report. Medicine (Baltimore) 2018;97 e11048.
7. Yamane T, Yokoi T, Nakayama Y, Nishina S, Azuma N. Surgical outcomes of progressive tractional retinal detachment associated with familial exudative vitreoretinopathy. Am J Ophthalmol 2014;158:1049–55.