Adult-Onset Foveomacular Vitelliform Dystrophy With Unilateral Presentation: A Case Series

Adult-onset foveomacular vitelliform dystrophy (AOFVD) is a rare condition affecting the macula that presents diagnostic and management challenges due to its varied manifestations and clinical overlap with other retinal disorders. As vitelliform lesions can occur in various conditions, such as Best disease and age-related macular degeneration, clinical presentation, multimodal imaging findings, and genetic testing can aid in accurate diagnosis. Although AOFVD typically affects both eyes, unilateral involvement can occur. This study presents four cases of unilateral AOFVD in female patients aged 43 to 66 years. Each patient was monitored for two years with fundoscopy and multimodal imaging, including color fundus photography, optical coherence tomography (OCT), OCT-angiography, fluorescein angiography, and fundus autofluorescence (FAF). All patients presented with a characterized solitary, subfoveal, yellow lesion on fundoscopy. FAF revealed intense hyperautofluorescence corresponding with the lesions. OCT revealed the accumulation of homogenous hyperreflective material between the retinal pigment epithelium and photoreceptors. No abnormal findings were observed in the fellow eyes. Subfoveal choroidal thickness was measured at 355 μm, 545 μm, 486 μm, and 669 μm in the affected eyes. While AOFVD typically manifests bilaterally, these cases demonstrate a unique unilateral presentation, highlighting the importance of comprehensive examination and differential diagnosis. Distinguishing cases with unilateral presentation from other conditions can be more challenging, so awareness of this unusual phenotype and its clinical characteristics must be raised. Choroidal thickness measurements provide additional insights into AOFVD pathophysiology, suggesting a potential association with the pachychoroid spectrum.