Macular retinoschisis in a patient with multiple lymphoproliferative malignancies

Abstract

Purpose: To describe a case of macular retinoschisis in a patient with multiple systemic lymphoproliferative disorders and the challenges of accurate diagnosis of uveal lymphoma.

Observations: A 66-year-old male presented with unilateral macular retinoschisis and choroidal thickening in the right eye had an unrevealing systemic work-up for inflammatory or neoplastic processes. The patient eventually developed mild vitritis and a diagnostic vitrectomy was performed. Flow cytometry of the vitreous showed clonal expansion consistent with a mature B cell lymphoma of the uveal tract. Repeat systemic work-up including bone marrow biopsy, however, revealed two additional systemic conditions: Waldenstrom macroglobulinemia (WM) and monoclonal B cell lymphocytosis. Based on B cell gene rearrangement testing, the choroidal lymphoma was found to be distinct from the systemic lymphoma. In total, the patient had three lymphoproliferative disorders. Soon after the diagnosis, the left eye also developed choroidal thickening. The patient received orbital external beam radiation and zanubrutinib to treat the systemic WM and the choroidal lymphoma with improvement of macular retinoschisis and choroidal thickening.

Conclusions: We present a case of macular retinoschisis in a patient with choroidal lymphoma and multiple systemic lymphoproliferative disorders. Both the systemic disease and the uveal lymphoma contributed to the unique ocular findings in this patient. Our case highlights the challenges of uveal lymphoma diagnosis and the importance of tissue biopsy, systemic work-up, and close monitoring.

Fig. 1

Posterior segment findings in both eyes: Macular fundus photo of the right eye (a) showed disc edema, retinoschisis centrally, and hypopigmented choroidal lesions inferior to the nerve. OCT infrared image of the right eye (b) depicted area of schisis and extrafoveal subretinal fluid (green arrowhead). OCT B scan through the fovea (c) demonstrated the retinoschisis (orange arrow) and subretinal fluid, as well as a thickened choroid (light blue arrow). In contrast, the left eye macular fundus photo (d), OCT infrared image (e), and OCT b scan (f) did not show retinoschisis, subretinal fluid, or choroidal lesions. There was a mild epiretinal membrane and choroid thickness (dark blue arrow) was normal.

Fig. 2

Fluorescein angiography, ICG, and B scan of the right eye: Optos ultra-wide field fundus photo showed innumerable yellow choroidal lesions in the inferonasal quadrant (green arrow). On fluorescein (top panels), there was no retinal vascular leakage to suggest CME or vasculitis, but there was disc leakage indicating mild papillitis (arrowhead). The choroidal lesions cannot be seen on fluorescein. However, the hypocyanescent spots on ICG correlated nicely with those shown on Optos photo in the early and mid-phase (green arrow). In late phase (11:30), there appeared to be more spots than can be seen on funduscopic exam, especially in the temporal periphery (purple arrow). B scan of the right eye again highlights the retinoschisis of the macula as well as a mildly thickened choroid.

Fig. 3

Before and after treatment: 15 months after initial presentation, the choroid remained thickened in the right eye (orange double arrow) with profound retinoschisis (light blue). The left eye had no retinal changes, but the choroid was thickened compared to presentation (orange double arrow). Two months after treatment with external beam radiation and zanubrutinib therapy, the retinoschisis and choroidal thickness dramatically improved in the right eye (dark blue arrow and purple double arrow). Even the left eye had a small decrease in the choroidal thickness (purple double arrow).