Intraocular-central nervous system lymphoma - Clinical features, diagnosis, and outcomes

Objective: To analyze the clinical features, laboratory investigations, and diagnosis of intraocular-central nervous system (CNS) lymphoma in a cohort of patients who underwent diagnostic vitrectomy. Design: Retrospective case series. Method and Study Materials: Thirty-four vitreous biopsy specimens obtained from 26 patients with treatment-resistant or unusual uveitis were re-evalua ted in a masked fashion. The specimens were classified into three groups: " negative," "suspicious of malignancy," and "positive" based on the cytologi c features, immunomarkers, and flow cytometry. The medical records of the p atients were reviewed retrospectively. Main Outcome Measures: The reliability of vitreous cytology in diagnosing i ntraocular-CNS lymphoma and the differences in clinical features of patient s with intraocular-CNS lymphoma and uveitis. Results: The two ocular pathologists concurred in their criteria for interp retation of all specimens. There was 100% concordance between the cytologic reports read independently by the two ocular pathologists over the 5-year period and the read-out done in a masked fashion at the time of the study. Ten patients were diagnosed with intraocular-CNS lymphoma based on the vitr eous cytology and clinical features. The time interval between the initial presentation and vitreous biopsy was 1 week to 2 years, with 80% of the pat ients diagnosed within the first year. Retinal involvement in the form of l ymphomatous subretinal pigment epithelial infiltrates, vasculitis, and appa rent retinochoroiditis was present in six cases. Initial neuroimaging studi es revealed concomitant CNS involvement in three patients, and an additiona l three developed CNS lymphoma following diagnosis by vitreous biopsy. Pati ents were treated with radiotherapy, chemotherapy, or both. Two of the four patients with a follow-up of greater than 12 months died due to CNS involv ement. Conclusions: Vitreous cytology is a sensitive, reliable, and reproducible m ethod of diagnosing intraocular-CNS lymphoma. A high index of suspicion bas ed on the clinical findings and course of the uveitis is critically importa nt in decision-making for diagnostic vitrectomy. Central nervous system inv olvement is frequent and associated with a high mortality rate.