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Updated: Aug 23, 2025
Author Spotlight: Ex Vivo OCT-Based Multimodal Imaging of Human Donor Eyes for Research into Age-Related Macular Degeneration
Published on: May 26, 2023
Bilateral asymptomatic macular hypopigmentation in a young woman: multimodal imaging and pathogenetic hypothesis
Federico Fantaguzzi1, Ilaria Zucchiatti1, Riccardo Sacconi1
1Department of Ophthalmology, University Vita-Salute, IRCCS San Raffaele, Milan, Italy.
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.
