Diagnostic Yield of Vitreous Biopsy and MYD88 Mutation Analysis in Vitreoretinal Lymphoma: A Retrospective Cohort Study.

INTRODUCTION

The aim of this study was to characterize the clinical, imaging, diagnostic, and treatment features of vitreoretinal lymphoma (VRL) in a tertiary referral center.

METHODS

Retrospective review of patients with VRL managed at Inselspital, Bern University Hospital, between February 2022 and February 2026. Demographic, clinical, multimodal imaging, biopsy, MYD88 mutation, treatment, and survival data were analyzed.

RESULTS

Seventeen eyes from 9 patients were included (median age 70 years): ten eyes with biopsy-confirmed VRL without concurrent CNS lymphoma, and seven eyes with ocular involvement in the context of confirmed CNS lymphoma, including two eyes where ocular diagnosis relied on clinical and imaging findings alone. Mean symptom-to-diagnosis interval was 41 weeks (range 1-104 weeks). At presentation, vitreous cells were present in 94.1% and anterior chamber cells in 29.4%. Posterior segment findings included inner/outer retinal disruption (47.1%), retinal infiltration (29.4%), intraretinal hyperreflective foci (52.9%), irregularity of the RPE (23.5%), CME (23.5%). All patients underwent vitreous or transretinal biopsy, with 11 biopsies performed overall; 8 (72.7%) were cytology-positive. MYD88 mutations were detected in 80% of tested cases (8/10). All cases were reviewed in a multidisciplinary tumor board. VRL without concurrent CNS involvement was mainly treated with local radiotherapy, whereas cases associated with extraocular involvement predominantly received combined systemic immunochemotherapy and radiotherapy. Mean follow-up was 18 months, with no deaths recorded during follow-up.

CONCLUSION

VRL remains a diagnostic challenge due to heterogeneous and nonspecific presentation often leading to a delayed diagnosis. Multimodal imaging, vitreous biopsy, and MYD88 analysis are essential, with MYD88 providing key support in cytology-negative cases. Multidisciplinary management optimizes outcomes.