1

Introduction

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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