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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 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.    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.

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