Idiopathic Acute Exudative Polymorphous Vitelliform Maculopathy - Case Series and Extended Features

Idiopathic acute exudative polymorphous vitelliform maculopathy (AEPVM) is a rare condition characterized by acute vision loss and distinctive retinal findings. Here we describe the disease course in three previously unpublished subjects diagnosed with AEPVM and a previously undescribed imaging feature.

We present the clinical presentation, disease progression, and multimodal imaging, along with retinal electrophysiology and genetic testing for PRPH2 and BEST1.

All patients exhibited AEPVM-related retinal findings, including bilateral localized serous macular detachments that coalesced over time, forming yellow white vitelliform deposits with a hyperautofluorescent meniscus. SD-OCT revealed a previously unreported selective elongation of the outer retina throughout the macula, sparing the retinal midperiphery. Full-field electroretinography )ERG( was near normal in two patients, while multifocal ERG showed reduced responses. Genetic sequencing of PRPH2 and BEST1 revealed no pathogenic mutations, and systemic evaluation ruled out malignancy.

Idiopathic AEPVM is a rare disease characterized by distinctive retinal imaging findings. An interesting observation is that the outer retinal elongation occurs only in the macular region of the retina, which is supported by the ERG results. These findings suggest an interruption at the level of the macular photoreceptors, retinal pigment epithelium (RPE), or their interactions.