White and dark without pressure abnormalities are benign, asymptomatic fundus abnormalities observed without scleral depression and often found incidentally on routine ophthalmic examination.1 These abnormalities have been observed in patients with ocular conditions including retinal astrocytic hamartoma, multiple evanescent white dot syndrome, HLA-B27 anterior and intermediate uveitis, sickle cell retinopathy, and congenital hypertrophy of the retinal pigment epithelium.1,2 Although the pathophysiology and corresponding histopathology of white and dark without pressure abnormalities are not well understood, associated reflectivity changes have been observed in the outer retina on optical coherence tomography (OCT), affecting the ellipsoid layer and interdigitation zone.3 Herein, we present a case of concomitant white and dark without pressure abnormalities surrounding congenital hypertrophy of the retinal pigment epithelium and correlate clinical findings with OCT imaging.
A healthy 29-year-old woman with no significant medical history was noted to have a pigmented spot in her left eye. She was referred to the Ocular Oncology Service at Wills Eye Hospital for a second opinion due to a family history of choroidal melanoma.
On examination, visual acuity with myopic correction was 20/25 in the right eye and 20/20 in the left eye. Intraocular pressures were 22 mm Hg in the right eye and 17 mm Hg in the left eye. Anterior segment examination of both eyes and funduscopic examination of the right eye were unremarkable. Funduscopic evaluation of the left eye revealed white and dark without pressure fundus abnormalities measuring total 17 mm in diameter, located nasal to the optic disc and surrounding a tiny flat pigmented lesion, consistent with congenital hypertrophy of the retinal pigment epithelium, measuring less than 1 mm in diameter (Figure 1A).
A 29-year-old woman with a small focus of congenital hypertrophy of the retinal pigment epithelium in the nasal fundus was noted to have (A) surrounding white without pressure (white arrows) and dark without pressure (yellow arrows) abnormalities. Optical coherence tomography (OCT) (vertical cut) shows (B) the transition from hyperreflectivity (white without pressure [white arrows]) to hyporeflectivity (dark without pressure [yellow arrows]) of the ellipsoid layer with thickened retinal pigment epithelium (blue arrow) corresponding to congenital hypertrophy of the retinal pigment epithelium. OCT (horizontal cut) shows (C) similar outer retinal transitions from hyporeflectivity (dark without pressure [yellow arrows]) to hyperreflectivity (white without pressure [white arrows]) surrounding congenital hypertrophy of the retinal pigment epithelium (blue arrow).
The B-scan ultrasonography confirmed a flat, solid congenital hypertrophy of the retinal pigment epithelium of less than 1-mm thickness, and spectral-domain OCT (SD-OCT) documented the congenital hypertrophy at the level of the retinal pigment epithelium. Further SD-OCT imaging demonstrated linear hyperreflectivity of the ellipsoid layer corresponding to white without pressure abnormalities and hyporeflectivity of the ellipsoid in dark without presure abnormalities (Figures 1B–1C). The transition from hyperreflectivity to hyporeflectivity was abrupt and corresponded precisely to the clinical transition of white without pressure to dark without pressure abnormalities. There was no disturbance in the photoreceptor layer or inner retinal layers, and there was no vitreoretinal pathology. Observation with routine monitoring was recommended.
The first report of white with pressure and white without pressure abnormalities was by Schepens in 1952; he described gray-white fundus lesions, named according to their detection with or without scleral indentation.4,5 Subsequent studies of SD-OCT imaging of white without pressure abnormalities demonstrated hyperreflective changes in the ellipsoid layer and interdigitation zone during transition from a normal retina to a white without pressure abnormality.6 Similar darkly pigmented fundus lesions were later identified in African-American patients with sickle retinopathy,7 leading to the suggested association of dark without pressure abnormalities in pigmented individuals. A recent SD-OCT imaging study of dark without pressure abnormalities in white, African-American, Asian, and Hispanic patients revealed hyporeflective outer retinal changes corresponding to the pigmented fundus areas, completely opposite of the changes found in patients with white without presure abnormalities.1
The transient nature of dark without pressure abnormalities and structural alterations in highly myopic patients with white without pressure abnormalities suggests that white and dark without pressure abnormalities are acquired conditions. Although the pathogenesis of white without pressure abnormalities remains unclear, outer retinal changes on OCT imaging have led to theories that acquired white without pressure abnormalities could result from inward vitreous pressure exerted on the peripheral retina.3 Most recently, the work of Diaz et al.3 based on the peripheral location of most white without pressure abnormalities suggests that a large vitreous base in older patients with myopia likely leads to clinically evident retinal whitening that expands in area with age. Orlin et al.8 suggested that it is possible that a thinner nerve fiber layer in the periphery provides less cushion for capillaries in that region, allowing vitreous traction to diminish blood flow and produce a blanching effect, appreciated as white without pressure abnormalities.
In our patient, white and dark without pressure abnormalities were located posteriorly and surrounded a small focus of congenital hypertrophy of the retinal pigment epithelium. Shields et al.9 studied 330 cases of congenital hypertrophy of the retinal pigment epithelium and noted a mean diameter of 4.5 mm compared to less than 1 mm in the current study, and congenital hypertrophy of the retinal pigment epithelium location in the peripapillary region in 1%, as seen in the currrent study.9 An interesting observation made by Shields et al.9 was that white without pressure abnormalities were noted in 1% of cases and mostly on the anterior margin of a peripheral lesion. In the current study, we noted white and dark without pressure abnormalities completely surrounding the small congenital hypertrophy of the retinal pigment epithelium. The relationship of these two conditions remains obscure.
Chang et al.2 documented a “shadow sign” due to dark without pressure abnormalities in 6 young myopic patients of dark complexion with congenital hypertrophy of the retinal pigment epithelium. This “shadow sign” surrounding congenital hypertrophy of the retinal pigment epithelium simulated melanoma with subretinal fluid but represented dark without pressure abnormalities. They acknowledged that there was no vitreoretinal traction in any case, and the relationship of congenital hypertrophy of the retinal pigment epithelium and dark without pressure abnormalities was unclear. They noted that all 6 patients were of dark complexion, 5 of the 6 patients were myopic, and both features may enhance the appearance of dark without pressure abnormalities against a dark or thin choroid.
The coexistence of white and dark without pressure abnormalities in the same eye has been documented, but the clinical significance of each condition has not been thoroughly explored.1 Through autofluoresence studies, Fawzi et al.1 concluded that photopigment is not responsible for distinction between white and dark without pressure abnormalities. Rather, both findings are due to changes at the level of the outer retina in optical reflectance. This is confirmed in our patient through OCT imaging studies. Although Fawzi et al.1 described a case of concomitant white and dark without presssure abnormalities with peripherally located congenital hypertrophy of the retinal pigment epithelium, to our knowledge, our report represents the first documented case of congenital hypertrophy of the retinal pigment epithelium completely surrounded by concomitant white and dark without pressure abnormalities. We suspect that other patients will likely have similar findings, but these findings may be underrecognized due to the classic peripheral location of congenital hypertrophy of the retinal pigment epithelium with difficult photographic exposure for documentation. Moreover, white and dark without pressure abnormalities may be observed simultaneously in the same eye less frequently due to the tendency of dark without pressure abnormalities to recede with age,2 whereas white without pressure abnormalities expand with age.3
We described the clinical and SD-OCT imaging features of coexisting white and dark without pressure abnormalities surrounding a small congenital hypertrophy of the retinal pigment epithelium that was located in the postequatorial region of the eye. Further studies are necessary to better understand the pathophysiology of white and dark without pressure abnormalities and the relationship with congenital hypertrophy of the retinal pigment epithelium.
- Fawzi AA, Nielsen JS, Mateo-Montoya A, et al. Multimodal imaging of white and dark without pressure fundus lesions. Retina. 2014;34:2376–2387. doi:10.1097/IAE.0000000000000388 [CrossRef]
- Chang MY, McBeath JB, McCannel CA, McCannel TB. “Shadow sign” in congenital hypertrophy of the retinal pigment epithelium of young myopic pigmented patients. Eye (Lond). 2016;30:160–163. doi:10.1038/eye.2015.187 [CrossRef]
- Diaz RI, Sigler EJ, Randolph JC, Rafieetary MR, Calzada JI. Spectral domain optical coherence tomography characteristics of white-without-pressure. Retina. 2014;34:1020–1021. doi:10.1097/IAE.0000000000000012 [CrossRef]
- Rutnin U, Schepens CL. Fundus appearance in normal eyes. IV. Retinal breaks and other findings. Am J Ophthalmol. 1967;64:1063–1078. doi:10.1016/0002-9394(67)93057-7 [CrossRef]
- Schepens CL. Subclinical retinal detachments. AMA Arch Ophthalmol. 1952;47:593–606. doi:10.1001/archopht.1952.01700030607005 [CrossRef]
- Choudhry N, Golding J, Manry MW, Rao RC. Ultra-widefield steering-based spectral-domain optical coherence tomography imaging of the retinal periphery. Ophthalmology. 2016;123:1368–1374. doi:10.1016/j.ophtha.2016.01.045 [CrossRef]
- Nagpal KC, Goldberg MF, Asdourian G, Goldbaum M, Huamonte F. Dark-without-pressure fundus lesions. Br J Ophthalmol. 1975;59:476–479. doi:10.1136/bjo.59.9.476 [CrossRef]
- Orlin A, Fatoo A, Ehrlich J, D'Amico DJ, Chan RP, Kiss S. Ultra-widefield fluorescein angiography of white without pressure. Clin Ophthalmol. 2013;7:959–964. doi:10.2147/OPTH.S43450 [CrossRef]
- Shields CL, Mashayekhi A, Ho T, Cater J, Shields JA. Solitary congenital hypertrophy of the retinal pigment epithelium: clinical features and frequency of enlargement in 330 patients. Ophthalmology. 2003;110:1968–1976. doi:10.1016/S0161-6420(03)00618-3 [CrossRef]