Surgical approach in a case of unilateral retinal pigment epithelium dysgenesis and literature review

PURPOSE: To present a case of unilateral retinal pigment epithelium dysgenesis (URPED) complicated with tractional retinal detachment and macular hole formation, and highlight the successful anatomical and functional restoration following surgical repair. To conduct an updated review of the literature. OBSERVATIONS: A 16-year-old asymptomatic female presented with a unilateral atypical peripapillary lesion of the retinal pigment epithelium (RPE) in the left eye. At baseline, best corrected visual acuity (BCVA) was 20/20 and anterior segment examination was unremarkable. Fundus examination revealed an irregularly shaped atrophy of the RPE adjacent to the optic disc with scalloped border of RPE hyperplasia and a fibroglial proliferation in the overlying retina. Optical coherence tomography demonstrated mild changes of the RPE and the outer retina layers. Three years after initial diagnosis, the patient was referred to our clinic due to blurry vision. Complete ophthalmological evaluation revealed tractional retinal detachment with full thickness macular hole formation. Pars plana vitrectomy with epiretinal membrane removal and internal limiting membrane peeling led to anatomical recovery of the macular area with BCVA of 20/32 at four-months postoperatively. CONCLUSIONS AND IMPORTANCE: This is the first report of tractional retinal detachment and macular hole as rare complications of URPED. Systematic follow-up examinations seem to be essential for the prevention of permanent visual loss, whereas prompt surgical intervention can contribute to visual acuity restoration in complicated cases.