Case report: the first case of unilateral retinal pigment epithelium dysgenesis in China

Abstract

Background: Unilateral retinal pigment epithelium dysgenesis (URPED) is a rare condition and is characterized by a unilateral and solitary lesion in the peripapillary region. The lesion presents with central atrophy, peripheral fibrosis, and hyperplastic changes in the retinal pigment epithelium (RPE). Herein, we report the first case of URPED in a Chinese individual using multimodal imaging techniques such as en-face optical coherence tomography (OCT) and optical coherence tomography angiography (OCTA). Case presentation: A 10-year-old girl presented with 20/40 vision in her left eye. Presented as a solitary, unilateral, large and yellowish-white lesion, with fringe-like margins was observed in the posterior pole and lower middle periphery of the left eye continuous with the optic nerve, indicated URPED. Infrared fundal (IR) images showed that the fringe-like contour of the lesion was visible, with diffuse hyperreflective signals specifically in the fovea, while with peripheral dark spots, having a typical leopard-spot like appearance. Fundus autofluorescence (FAF) revealed a markedly scalloped lesion containing a hypoautofluorescence area mixed with an isoautofluorescence area. Spectral-domain optical coherence tomography (SD-OCT) revealed the outer segments of photoreceptors presented with an inhomogeneous signal in the fovea, with a weak local signal. The ellipsoid and interdigitation zones were thinner than normal, while the RPE/Bruch's complex was not flat, with locally visible protrusions. En-face OCT image at the level of the RPE zone showed a mottled hyperreflective signal with peripheral hyporeflective spots, fringe-like margin lesions. OCTA of the avascular area of the fovea in the superficial, deep, and outer retinal layers appeared to be oval in shape, the choroid capillary layer revealed an increase in the density of the choroidal vasculature in the fovea. Conclusions: This is the first report on URPED in China. Both en-face OCT and OCTA were essential in observing and studying the disease. Further investigation is required to better define the en-face OCT and OCTA features of URPED and clarify the disease characteristics and prognosis.

Common clinical features of unilateral retinal pigment epithelium dysgenesis and combined hamartoma of the retina and retinal pigment epithelium

“…Peripapillary CHRRPE and URPED have many other similar manifestations/complications, including retinal vascular tortuosity, ERM, retinal folds, and CNV [ 2 , 12 ]. However, in other studies related to URPED, the URPED lesions were flat, and OCT showed a relatively normal structure of the neurosensory retina that was significantly different from that in peripapillary CHRRPE [ 11 , 13 , 14 ]. Therefore, we think that URPED may share some clinical features with peripapillary CHRRPE, and the relationship between URPED and CHRRPE needs further study.…”

The contribution of indocyanine green angiography in a case of unilateral retinal pigment epithelium dysgenesis

“…Other distinctive characteristics are the scalloped borders with focal hyperpigmentation of the RPE that lead to a distinctive leopard-spot semblance, and the unique dark reticular pattern observed on fundus autofluorescence (FAF) showing a signature inverted pattern compared with the hyperfluorescence noted with fundus fluorescence angiography (FFA). 2 URPED has a poorly documented etiology, pathophysiology, and prognosis with no specific treatment proposed as only a few cases [2][3][4][5][6][7][8][9][10][11][12] have been published since its definition. Herein, we hope to further enhance understanding of the expanded clinical spectrum of URPED by delivering a thorough depiction of its singular presentation via numerous imaging modalities including novel markers of highly detailed indocyanine green angiography (ICGA) features.…”

“…URPED has a poorly documented etiology, pathophysiology, and prognosis with no specific treatment proposed as only a few cases 2–12 have been published since its definition. Herein, we hope to further enhance understanding of the expanded clinical spectrum of URPED by delivering a thorough depiction of its singular presentation via numerous imaging modalities including novel markers of highly detailed indocyanine green angiography (ICGA) features.…”