Bilateral asymptomatic macular hypopigmentation in a young woman: multimodal imaging and pathogenetic hypothesis

PurposeMacular 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. ObservationsA 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. ConclusionsA complex dysregulation of both choroidal and RPE with melanin loss may be responsible for this condition.