Familial exudative vitreoretinopathy complicated with full thickness macular hole

Abstract

Rationale:To report a case of familial exudative vitreoretinopathy (FEVR) complicated with full-thickness macular hole (FTMH).Patient concerns:A 39-year-old male presented after becoming aware of metamorphopsia in his left eye.Diagnoses:Fundus examination showed a retinal avascular area, retinal vascular abnormality, and yellow exudation at the peripheral retina in both eyes. Optical coherence tomography findings revealed impending MH (IMH) due to posterior vitreous detachment (PVD) in his left eye. Despite of the occurrence of spontaneous complete PVD, an FTMH developed at 4 months after the onset of IMH.Interventions:To treat the FTMH, vitreous surgery was performed. Intraoperative findings revealed that the thick posterior vitreous membrane (PVM) had no adhesions with the edge of the FTMH. However, a thin epiretinal membrane (ERM) was observed around the MH.Outcomes:Postoperatively, the FTMH was closed, and the patient's corrected visual acuity improved from (0.4) to (0.8).Lessons:In this present case, an IMH developed via traction by a thick PVM, characteristic of FEVR, with FTMH then developing via traction by a thin ERM. Our findings reveal that it is vital to fully understand these anatomical features before performing vitreous surgery for FTMH complicated with FEVR.

Successful Management of Familial Exudative Vitreoretinopathy with a Large Macular Hole Using Inverted Internal Limiting Membrane Flap Technique

“…Our successful intervention with PPV is supported by prior reports that advocate for the effectiveness of vitrectomy in the management of FTMH in FEVR patients [3][4][5][6]. PPV with ILM peeling and gas tamponade is common treatment [5,6]. In our case, given the size of the…”

“…A report by Bochicchio et al [ 4 ] highlighted a 28-year-old female, who had thick PVM and lamellar MH that progressed to FTMH following initial vitreous surgery. Another case, presented by Kimura et al [ 5 ], involved a 39-year-old female whose impending MH, generated by the traction of thick PVM, developed into FTMH due to the traction of a thin ERM.…”

“…Our successful intervention with PPV is supported by prior reports that advocate for the effectiveness of vitrectomy in the management of FTMH in FEVR patients [ 3 – 6 ]. PPV with ILM peeling and gas tamponade is common treatment [ 5 , 6 ]. In our case, given the size of the FTMH, we employed the inverted ILM flap technique, a treatment strategy typically reserved for large macular holes [ 12 ].…”

“…Prior reports have described cases of FEVR in combination with macular disorders, presenting with a narrow vitreo-retinal adhesion in the fovea alongside perifoveal PVD [9]. Although the development of MH or vitreo-macular traction syndrome with such perifoveal PVD in the younger population is typically rare [10], numerous FEVR cases have been complicated by a thick PVM causing substantial vitreo-retinal traction to the macula [1][2][3][4][5][6][7][8][9]. However, FTMHs accompanying FEVR have been infrequently reported [3][4][5][6], making our understanding of this complication limited.…”

“…Although the development of MH or vitreo-macular traction syndrome with such perifoveal PVD in the younger population is typically rare [10], numerous FEVR cases have been complicated by a thick PVM causing substantial vitreo-retinal traction to the macula [1][2][3][4][5][6][7][8][9]. However, FTMHs accompanying FEVR have been infrequently reported [3][4][5][6], making our understanding of this complication limited.…”