‘Shadow sign’ in congenital hypertrophy of the retinal pigment epithelium of young myopic pigmented patients

Abstract

Purpose Congenital hypertrophy of the retinal pigment epithelium (CHRPE) may simulate choroidal melanoma in certain cases. We report unique clinical features we have observed in cases of CHRPE in young myopic pigmented patients. Methods Patients who were referred for evaluation of a suspicious choroidal lesion and found to have a CHRPE lesion with the clinical appearance of lesion elevation and a subretinal fluid-like 'shadow sign' were included. Patient and lesion characteristics were tabulated. Available images, including fundus photography, ultrasonography, optical coherence tomography (OCT), and fluorescein angiography (FA) were reviewed. Results Six patients were included. The 'shadow sign' was anterior to the CHRPE lesion in all cases. The mean age of the patients was 27.3 years. The ethnicities of the patients were Chinese (n = 1), Hispanic (n = 3), or African-American (n = 2). Five of six patients were myopic. Conclusions Although most CHRPE lesions appear flat on ophthalmoscopy, lesions in young myopic patients of pigmented ethnicities may appear elevated with a 'shadow sign' due to 'dark without pressure.' This new finding may be related to the vitreoretinal interface in young myopic pigmented patients and must be distinguished from true subretinal fluid and lesion thickness, which are often observed in choroidal melanoma.

Dark Without Pressure in a Case of Choroidal Osteoma

“…Upon review of the literature, dark without pressure findings were either isolated or found co-existing with other ocular pathologies including sickle cell retinopathy, myopia, congenital hypertrophy of the RPE, and astrocytic hamartoma. 3,4,8,9 To our knowledge, no previous case of dark without pressure associated with or coinciding with choroidal osteoma has been reported. It is important to note that this adjacent finding was not a reactive hyperplastic response to the choroidal tumor as evidenced from the peripheral OCT showing the characteristic outer retinal changes in reflectivity of dark without pressure lesions.…”

Analysis of White and Dark without Pressure in a Young Myopic Group Based on Ultra-Wide Swept-Source Optical Coherence Tomography Angiography

“…The existence of DWOP lesions has been reported in several diseases, but the incidence rate of DWOP lesions has rarely been reported [ 22 , 23 , 24 ]. In the case series reported by Fawzi A et al [ 7 ] DWOP was found in a 25-year-old girl with myopia and showed no significant progress at the 1-year follow-up.…”

“…In the study conducted by Amani A. Fawzi [ 7 ], WWOP was shown to have no relation to vitreal-retinal traction, but was related to the reflectivity changes in the photoreceptor layer, which is consistent with our research (shown in Figure 1 ). Previous studies have shown that DWOP can be seen in many fundus diseases, including hemoglobinopathy [ 15 ], retinal astrocytoma [ 7 ], white dot syndrome [ 7 ], HLA-B27 anterior middle uveitis [ 7 ], congenital retinal pigment epithelial hypertrophy [ 7 , 22 ], AIDS [ 19 ], Ebola [ 23 ], and choroidal osteoma [ 24 ]. The common feature of DWOP in OCT images is that the EZ is faded or has disappeared.…”

Dark-Without-Pressure, A Review

“…They highlighted the familiarity of this phenomenon with the OCT appearance of the dark adapted Mizuo-Nakamura-phenomenon, but had discrepancies, especially the circumscribed character of the photoreceptor abnormalities, normal full-field electroretinogram and the absence of functional deficits in DWP. Li, et al [6] and Chang, et al [7] reported about cases presenting with DWP, surrounding or near a congenital hypertrophy of the retinal pigment epithelium (CHRPE) area. As CHRPE have been associated to WWP [8], Chang, et al [7] suggested a possible induction of alteration of the vitreoretinal surface by the CHRPE, although in their case-series, the OCT showed no vitreoretinal alteration.…”

“…Li, et al [6] and Chang, et al [7] reported about cases presenting with DWP, surrounding or near a congenital hypertrophy of the retinal pigment epithelium (CHRPE) area. As CHRPE have been associated to WWP [8], Chang, et al [7] suggested a possible induction of alteration of the vitreoretinal surface by the CHRPE, although in their case-series, the OCT showed no vitreoretinal alteration. Steptoe, et al [9] reported having identified DWP next to 88.7% of the lesions due to Ebola virus disease in their patient cohort.…”