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



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.


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.


  • URPED is commonly complicated with retinal folds, CNV and ERM formation.

  • Tractional retinal detachment and macular hole are rare complications of URPED.

  • Successful surgical restoration of URPED-related complications.

  • Follow-up examinations are crucial for the prevention of permeant visual loss.


In 2002, a rare posterior pole disorder was firstly recognized and described by Cohen et al., based on its characteristic fundoscopic appearance of central atrophic area and peripheral retinal pigment epithelium (RPE) hyperplasia and fibrosis. This unique clinical entity was initially named as “Unilateral, idiopathic leopard-spot lesion of the RPE”. In the literature, there are several conditions that appear with a “leopard-spot” pattern and this term was nonspecific and quite confusing. Thus, in 2009 the authors proposed altering the previous name to “Unilateral retinal pigment epithelium dysgenesis – URPED”, mainly based on its pathognomonic characteristics in fundoscopy, fundus autofluorescence (FAF) and fluorescein angiography (FA). The URPED typically appears as a lesion with scalloped margins of mild fibrosis and atrophy, surrounding areas of RPE hyperplasia. In the mid-periphery, it is heterogenous with distinct lacunae of hyperplastic RPE, whereas the central area is characteristically atrophic. Additionally, FA pictures demonstrate an inverted pattern when compared to FAF ones. The hyperautofluorescent areas of the lesion on the FAF (i.e. the borders and the lacunae) are hypofluorescent on FA, while the central atrophic hypoautofluorescent area is seen as a well-defined hyperfluorescent lesion in FA due to window defect phenomenon.

The limited number of published cases in the literature results in insufficient information regarding the natural history and the pathophysiological mechanisms involved in this rare clinical entity. The natural course of the lesions is stable, although slow progress over time has been reported in cases with long-term follow-up. The prognosis of visual acuity is generally good, except for the cases which develop complications, such as choroidal neovascularization (CNV), epiretinal membrane (ERM), retinal folds, retinal detachment (RD) and foveal atrophy. Thus, the role of relatively new and non-invasive techniques of optical coherence tomography (OCT) and optical coherence tomography angiography (OCTA) is valuable in the assessment of URPED’s vitreoretinal interface disorders and especially in monitoring the development and treatment of secondary CNV membrane.

To the best of our knowledge, this is the first case of unilateral retinal pigment epithelium dysgenesis complicated with retinal detachment and macular hole formation that demanded immediate surgical intervention. This case emphasizes the importance of follow-up examinations as well as the early diagnosis in the final visual outcome despite the stable course in the majority of URPED cases. In addition to our case, we present a brief literature review summarizing the main characteristics of all reported cases ( Table 1 ).

Table 1

Unilateral retinal pigment epithelium dysgenesis: Characteristics of published cases.

Author Year Journal Age Sex History/ Presenting Symptoms/ VA Findings/ Complications Treatment/ Follow-up Final VA
1 Cohen et al. 2002 Arch Ophthalmol 34/ M • Metamorphopsia • CNV • Krypton laser photocoagulation 20/20
• 20/20 • Localized serous RD • Stable over 2 years
2 27/ M • History of boxing trauma • ERM, Cystic changes • Enlarged RPE hyperplasia over 7 years 20/40
• Incidental finding • Vascular tortuosity, Retinal folds
• 20/25
3 16/ F • “Visual fatigue” • Stable over 6 months 20/20
• 20/20
4 24/ M • History of DM type II • Juxtafoveal CNV • Krypton laser photocoagulation 20/128
• Visual loss • Central macular detachment • Progression of the leopard-spot lesion the last 10 years
• Metamorphopsia • Stable over 6 months after presentation
• 20/128
5 Cohen et al. 2009 Am J Ophthalmol 19/ M • Incidental finding • Stable over 20 months 20/20
• 20/20
6 36/ F • 20/32 • ERM • FU < 6 months 20/32
• Vascular tortuosity, Retinal folds
7 18/ M • 20/40 • Vascular tortuosity • No FU 20/40
8 42/ M • History of trauma – Vehicle accident – No globe injury • ERM, Cystic changes • FU < 6 months 20/400
• 20/400 • Localized RD
9 16/ F • 20/25 • Vascular tortuosity, Retinal folds • FU < 6 months 20/25
10 Riga et al. 2020 Ocul Oncol Pathol 52/M • Gradual visual loss • ERM inferotemporally • Slow growth over 8 years 20/200
• Vascular tortuosity, Retinal folds
• Retinal thickening and cystic degeneration
• RPE atrophy evolving fovea
• Metamorphopsia
• 20/40
11 Ding et al. 2020 BMC Ophthalmol 10/ F • Incidental finding • Stable over 18 months 20/25
• Visual acuity decrease
• 20/25
12 Florakis et al. 2019 Retin Cases Brief Rep 47/ M • Asymptomatic • No FU 20/20
• 20/20
13 Gal-Or O et al. 2019 Retin Cases Brief Rep 30/ F • Metamorphopsia • Sub-retinal presumed RPE tumor • Intravitreal anti-VEGF N/A
• 20/25 • FU < 6 months
14 Preziosa et al. 2019 Retin Cases Brief Rep 51/ F • Progressive vision loss • CNV • 2 intravitreal injections of bevacizumab 20/50
• 20/200 • FU over 2 months
15 Yamasaki et al. 2017 Retin Cases Brief Rep 8/ M • 20/20 • Slight expansion of RPE atrophy over 2 years 20/20
16 Krohn et al. 2018 Acta Ophthalmol 21/ M • Enlarged blind spot • RPE atrophy evolving fovea • Expansion of RPE atrophy 20/100
• 20/20 • Thickened and disorganized retinal tissue • FU over 10 years
17 Renz et al. 2012 Arch Ophthalmol 35/ F • Photopsias and dimmer vision the last 6 years • Outer retinal thinning • No FU N/A
• Enlarged blind spot • Attenuation of the IS/OS junction
• 20/25 • Bilateral findings
18 Shimoyama et al. 2014 Case Rep Ophthalmol 8/ M • 20/20 • Enlargement of the lesion • CNV resistant to treatment 20/50
• Development of CNV • Expansion of lesion and new CNV developed
• Slightly hyperemic optic nerve • FU over 7 years
• Visual disturbances 23 months after the first visit
19 Şekeryapan Gediz et al. 2020 Turk J Ophthalmol 32/ M • 20/32 • Retinal folds • Monthly intravitreal injections of bevacizumab 20/20
• Thinned and discontinuous vessels in the lesion area • Improvement (regression of SRF, persistence of IRF)
• Development of CNV, SRF, thickened retina over the CNV • FU over 6 months
20 Berthout et al. 2008 J Fr Ophtalmol 36/ F • Progressive vision loss • Retinal folds • No FU N/A
• Metamorphopsia • Fibroglial membrane
• 20/32 • Focal macular edema nasally
21 Diafas et al. 2020 16/ F • Initially asymptomatic – 20/20 • Fibroglial proliferation • PPV with ERM-ILM peeling 20/32
• Local tractional retinal detachment
• Macular hole • FU over 4 months
• Progressive vision loss 3 years later – Counting Fingers in 1 m

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Jan 3, 2022 | Posted by in OPHTHALMOLOGY | Comments Off on Surgical approach in a case of unilateral retinal pigment epithelium dysgenesis and literature review

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