CRYSTALLINE RETINOPATHY IN A 6-YEAR-OLD BOY WITH HISTORY OF HIGH-DOSE TAMOXIFEN USE.

BACKGROUND/PURPOSE: To report a case of crystalline retinopathy following high-dose tamoxifen use in a pediatric patient. METHODS: Observational case report. RESULTS: A 6-year-old boy with history of more than 80-g cumulative tamoxifen use over 25 months for the treatment of atypical teratoid/rhabdoid tumor of the posterior fossa presented with a 4-month history of blurred vision. Fundus examination demonstrated multiple superficial foveal refractile opacities in each eye, and spectral optical coherence tomography revealed numerous punctate hyperreflective deposits located within the inner retina. These findings were suggestive of tamoxifen retinopathy. CONCLUSION: To our knowledge, this is the first report of multimodal retinal imaging of tamoxifen retinopathy in a pediatric patient. Given the risk of permanent vision loss, ophthalmic baseline screening and monitoring should be considered for children receiving tamoxifen.

Correlation of Immunological Markers with Disease and Clinical Outcome Measures in Patients with Autoimmune Retinopathy.

Purpose: To determine if immunological markers (1) are significantly different between autoimmune retinopathy (AIR) patients and controls and (2) correlate with disease progression in AIR patients. Methods: We enrolled patients with a possible AIR diagnosis, as well as control participants without eye disease, autoimmunity, or cancer. Immunological markers were tested in all participants. In addition, AIR patients had up to three blood draws for testing over their disease course. For AIR patients, clinical measures, including visual acuity (VA) and Goldmann visual field (GVF) area, were recorded at each draw. We used the Mann-Whitney U test to compare the immunological markers between AIR patients and controls. We used multilevel mixed-effect regression to investigate the correlation between markers and clinical parameters over time in AIR patients. Results: Seventeen patients with AIR and 14 controls were included. AIR patients had a higher percent of monocytes (Z = 3.076, P = 0.002). An increase in immunoglobulin G against recoverin was correlated with a VA decrease (ß = 0.0044, P < 0.0001). An increase in monocyte proportion was correlated with a decrease in GVF area (ß = -7.27, P = 0.0021). Several markers of B-cell depletion were correlated with GVF improvement. Conclusions: Monocytes may play a role in AIR pathophysiology and be a disease activity marker. B-cell depletion markers correlated with clinical parameter improvement, particularly GVF. Translational Relevance: This work elucidates immunologic markers that may improve the accuracy of diagnosis and treatment of AIR.