Retinal sensitivity and photoreceptor arrangement changes secondary to congenital simple hamartoma of retinal pigment epithelium

Abstract

BackgroundThe congenital simple hamartoma of the retinal pigment epithelium is a benign lesion and previous observations with noninvasive imaging have detected potential photoreceptor abnormalities and retinal function interplay.Case presentationA 35-year-old woman was found to have an asymptomatic, solitary, circumscribed, pigmented lesion in her left eye. The patient underwent ophthalmic examination including multimodal evaluation with fluorescein angiography, near-infrared reflectance scanning laser ophthalmoscopy, blue autofluorescence, enhanced-depth imaging spectralis B-scan optical coherence tomography (EDI-SBOCT), en face OCT angiography (OCT-A) and microperimetry plus adaptive optics imaging. Ophthalmoscopic examination revealed a juxtafoveolar pigmented lesion with feeding retinal arteriole, consistent with congenital simple hamartoma of RPE. There was no macular edema, exudation, hemorrhage, traction or subretinal fluid. Multimodal imaging of the mass using fluorescein angiography revealed intra-lesion late staining, near-infrared reflectance imaging demonstrated intrinsic hyperreflectivity, short-wavelength autofluorescence and red-free filter photography revealed blocked signal, and SBOCT showed abrupt shadowing. On OCT-A, an exclusive ring-shaped vascular circuit with increased foveal avascular zone was noted. Adaptive optics revealed cell density arrangement and retinal sensitivity correlations on microperimetry.ConclusionThese findings suggest that this hamartomatous lesion might cause specific cellular changes that impact retinal sensitivity response and potentially result from vasculature malnourishment to the outer retinal layers.

Macular Edema in a Peculiar Case of Pigmentary Maculopathy

“…3 In the current case, potential retinal function at the site of the pigmented lesions and surrounding margins was evaluated by microperimetry. Similar to Rodrigues et al, 8 we detected focally reduced RS among the corresponding areas of CSHRPE in the right eye (Figure 8A).…”

“…3,[5][6][7] Fluorescein angiography may reveal feeder vessels related to the lesion. Similar to other studies, [5][6][7][8][9] the current case had intrinsic flow to the pigmented lesions at the SCP, seen bilaterally on OCTA and more evident in the left eye (Figures 6 and 7). The retinal vessels were oriented in apparent continuity with the lesion vasculature.…”

“…After those four publications, 21 others characterized the clinical and multimodal imaging features of CSHRPE. 5–26 In total, 42 patients have been described of age between 8 and 80 years. Of these cases, only a single case of bilateral disease has been reported in a patient with Down syndrome.…”

“…2,3 In the 42 cases reported in the literature, 21 of 42 (50%) had a best-corrected visual acuity of 20/25 or better, 5 of 42 (12%) between 20/30 and 20/40, and 16 of 42 (38%) below 20/40. 3,5–26 The factors related to decreased visual acuity are macular edema, 11,13 amblyopia, 11 vitreomacular traction and surrounding foveal traction with an epiretinal membrane, 2,6,11 and tractional macular hole formation. 12,25 Interestingly, mild surrounding retinal traction is a common finding and may provide the pathophysiological basis for the development of foveal traction and macular holes.…”

Near-Infrared Reflectance Imaging in Retinal Diseases Affecting Young Patients

“…The congenital simple hamartoma of the RPE (CSHRPE) is a rare benign pigmented lesion found in phakomatoses [ 30 ]. The existing literature shows the role of NIR in delineating a hyperreflective lesion otherwise not clearly detectable on color fundus photography [ 31 , 32 ]. Gass described this alteration as a hamartomatous malformation involving the RPE, retina, retinal vasculature, and overlying vitreous [ 33 ].…”