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

Abstract

Background: The 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 presentation: A 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 fluores-cein 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 microp-erimetry 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, exuda-tion, 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. Conclusion: These 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.