Placoid Macular Lesion as an Atypical Presentation of Vitreoretinal Lymphoma Mimicking Autoimmune Retinopathy

To report a case of vitreoretinal lymphoma (VRL) presenting with a distinctive placoid-like pattern of macular hyperautofluorescence, initially misdiagnosed as autoimmune retinopathy.

We conducted a single case report employing multimodal imaging, including fundus autofluorescence, optical coherence tomography, and angiographic imaging, complemented by multiparametric liquid biopsy analysis of vitreous, aqueous, and cerebrospinal fluid.

A 68-year-old Caucasian man presented with bilateral placoid hyperautofluorescent lesions at the posterior pole, stellate keratic precipitates, and subretinal deposits. Despite bilateral vitrectomy samples showing negative lymphomatous cytological findings, cerebrospinal fluid (CSF) analysis revealed a MYD88 L265P mutation and an elevated IL-10/IL-6 ratio, providing strong molecular evidence supporting a diagnosis of VRL. A five-year standing brain lesion had remained stable until vitreoretinal manifestations' onset. The patient was successfully treated with intravitreal methotrexate and systemic chemotherapy followed by consolidative low-dose radiotherapy.

VRL can present with a placoid-like macular phenotype that closely mimics autoimmune retinopathy, representing an unusual imaging presentation that has yet to be well characterized in the literature. Extended latency periods between central nervous system involvement and ocular manifestations are possible, potentially longer than previously reported. CSF analysis for MYD88 mutation and IL-10/IL-6 ratio provides crucial diagnostic value when vitreous sampling is inconclusive, emphasizing the importance of multi-parametric liquid biopsy approaches in challenging VRL cases.