Purpose: To report additional data on a pattern of the fundus described in 2002 as unilateral, idiopathic leopard-spot lesion of the retinal pigment epithelium (RPE).
Design: Observational, consecutive case series.
Methods: The fundus characteristics, natural history, and prognosis of 9 patients are described after examining them by means of diagnostic adjuncts not previously available, including optical coherence tomography (OCT) and fundus autofluorescence (FAF) photographs.
Results: Nine patients, 6 male and 3 female, aged 14 to 42, presented with a large area, usually contiguous to the optic nerve, characterized by a distinct scalloped margin of reticular RPE hyperplasia, mid-lesion lacunae of RPE hyperplasia, and central thinning and atrophy of the RPE. FAF of the lesion showed a pattern that is inverted relative to fluorescein hyperfluorescence with a distinctive dark reticular pattern. OCT revealed fibroglial changes of the above retina in some cases. Two cases that have been documented up to 10 years showed enlargement of the affected area, one slightly and one significantly. Associated lesions included retinal folds (4 cases), retinal vascular tortuosity (4 cases), and progressive localized hyperplasia of the RPE (1 case). Related complications included choroidal neovascularization (2 cases) and localized retinal detachment (1 case).
Conclusion: The inverted scalloped patterns of hyperfluorescence and hypofluorescence on fluorescein angiography and FAF with the newly described OCT features may help in the diagnosis of this rare condition of the RPE. Vision-threatening complications may be observed. Based on the present updated review of this condition, we suggest changing the name of this entity to "unilateral retinal pigment epithelium dysgenesis."
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