Purpose: Macular retinal pigment epithelium (RPE) hypopigmentation is a recently described very rare condition and its pathogenesis is not completely understood. We report the case of a 23-year-old female who presented with bilateral whitish, oval-shaped foveal lesions and we speculated about the possible etiopathogenetic origin.
Observations: A 23-year-old female presented to our consideration for a routine ophthalmology visit. Visual acuity was 20/20 in both eyes. The fundus examination revealed a perifoveal choroidal nevus in the right eye and a bilateral yellowish, oval-shaped lesion centered on the fovea. Imaging tests (Spectral Domain-Optical Coherence Tomography, short wavelength and near-infrared autofluorescence) and functional tests (microperimetry and multifocal electroretinogram) were within normal limits, supporting the diagnosis of macular hypopigmentation without functional loss.
Conclusions: A complex dysregulation of both choroidal and RPE with melanin loss may be responsible for this condition.
Keywords: Macular retinal hypopigmentation; Near-infrared autofluorescence; Optical coherence tomography; Retinal pigment epithelium; Short-wavelength autofluorescence.
© 2022 The Authors.