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Purpose: To evaluate choroidal findings in patients with histiocytosis including subfoveal choroidal thickness (SFCT), and multimodal imaging in eyes with choroidal infiltrates visible by ophthalmoscopy; and to determine if abnormalities change with histiocytosis-directed (kinase inhibitor) therapy., Participants: 91 patients with histiocytosis and 41 age- and gender-matched controls., Design: Retrospective comparative study at single tertiary cancer referral center., Methods: Clinical exam, fundus photography and OCT were used to assess choroidal findings. Clinically evident choroidal infiltrates by ophthalmoscopy were recorded and choroidal vascular architecture was qualitatively examined. SFCT and was measured using enhanced depth imaging spectral domain optical coherence tomography (EDI SD-OCT) from the outer portion of Bruch's membrane to the choroidal scleral interface., Main Outcome Measure: SFCT compared to matched controls; secondary outcome was change in SFCT on histiocytosis-directed (kinase inhibitor) therapy. Multimodal imaging of choroidal infiltrates visible by ophthalmoscopy., Results: One hundred and eighty two eyes of 91 patients (46 males, 45 females) with histiocytiosis (Erdheim-Chester 35, Rosai-Dorfman 21, Xanthogranuloma 7, Mixed histiocytosis 11, Langerhans cell histiocytosis 15 and other 2) were examined. In histiocytosis patients, the mean SFCT was 336.2 +/- 94.9 μm compared with 250.3 +/- 60.7μm in the control group (p<0.0001). 69% of histiocystosis patients had SFCT > 275μm compared to 27% in controls (p< 0.0001). Subtype of histiocytosis, sites of bone or central nervous disease, posterior segment/other sites of ophthalmic disease, or mutational profile did not correlate with SFCT. In a subgroup analysis of 35 patients naïve to prior treatment, with > 6 mos follow-up, the proportion of SFCT > 275 μm significantly decreased (p-value = 0.0016) on histiocytosis-directed (kinase inhibitor) therapy. 19.8% of patients had clinically evident choroidal infiltration: majority were yellow creamy, geographic, located posteriorly and hyperautofluorescent; with enlarged Haller's vein bordering the infiltrate, choriocapillaris compression and loss of choroidal architecture by OCT., Conclusions: In this cohort, 19.8% of histiocytosis patients had clinically evident infiltration of their choroid. Furthermore, the majority of patients with histiocytosis had increased subfoveal choroidal thickness compared with age- and gender-matched controls. The thickened choroid decreases on histiocytosis-directed (kinase inhibitor) therapy and may be a marker of response to systemic treatment., (Copyright © 2024. Published by Elsevier Inc.)

Purpose: To investigate clinical and morphologic characteristics of serous retinal disturbances in patients taking extracellular signal-regulated kinase (ERK) inhibitors., Design: Single-center retrospective study of prospectively collected data., Participants: Of 61 patients receiving ERK inhibitors for treatment of metastatic cancer, this study included 40 eyes of 20 patients with evidence of retinopathy confirmed by OCT., Methods: Clinical examination, fundus photography, and OCT were used to evaluate ERK inhibitor retinopathy. The morphologic features, distribution, and location of fluid foci were evaluated serially. Visual acuity (VA) and choroidal thickness measurements were compared at baseline, fluid accumulation, and resolution., Main Outcome Measures: Characteristics of treatment-emergent choroid and retinal OCT abnormalities as compared with baseline OCT findings and the impact of toxicity on VA., Results: Of 20 patients with retinopathy, most showed fluid foci that were bilateral (100%), multifocal in each eye (75%), and with at least 1 focus involving the fovea (95%). All subretinal fluid foci occurred between the interdigitation zone and an intact retinal pigment epithelium. No statistical difference was found in choroidal thickness at fluid accumulation and resolution compared with baseline. Forty-five percent of eyes showed evidence of concomitant intraretinal edema localized to the outer nuclear layer. At the time of fluid accumulation, 57.5% eyes showed a decline in VA (mainly by 1-2 lines from baseline). For all eyes with follow-up, the subretinal fluid and intraretinal edema were reversible and resolved without medical intervention, and best-corrected VA at fluid resolution was not statistically different from baseline. Concomitant intraretinal fluid was not associated with worsening of VA. No patient discontinued or decreased drug dose because of retinopathy., Conclusions: This study showed that ERK inhibitors may cause subretinal fluid foci with unique clinical and morphologic characteristics. The observed foci were similar to mitogen-activated protein kinase kinase (MEK) inhibitor-associated retinopathy and distinct from central serous chorioretinopathy. However, unlike with MEK inhibitors, an increased occurrence of concomitant intraretinal fluid without significant additive visual impact seems to occur with ERK inhibitors. In this series, ERK inhibitors did not cause irreversible loss of vision or serious eye damage; retinopathy was self-limited and did not require medical intervention., (Copyright © 2021 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.)

Purpose: Magnetic resonance imaging (MRI) has been used for baseline brain imaging and afterward as a screening tool for trilateral retinoblastoma (TRB), but there is no consensus on timing or frequency of screening worldwide. In this study, a cohort of hereditary retinoblastoma patients at increased risk for TRB was identified and the usefulness of aggressive neuroimaging was examined., Design: Retrospective review of the medical records and MRI reports of patients with retinoblastoma treated at Memorial Sloan Kettering Cancer Center between January 1, 2006, and December 31, 2016., Participants: Three hundred forty-nine total patients with retinoblastoma, including 215 hereditary retinoblastoma patients in the screening group., Methods: We reviewed 804 MRI studies of the orbit or brain. Patient and disease characteristics, including laterality, family history, and gene mutation status were analyzed. The impression of every MRI was coded 1 to 5, each value representing a different abnormality., Main Outcome Measures: We calculated the incidence of TRB in patients with germline disease as well as the incidence of screening MRI scans showing TRB., Results: Among our hereditary retinoblastoma screening cohort (n=215) 4 patients with TRB were identified on screening MRI. All 4 patients showed bilateral disease, pineal gland tumors, and a latency period of at least 1 year. Three of the 4 were deceased by the end of the study. The incidence of TRB diagnosis was 1.9% (95% confidence interval [CI], 0.7%-4.9%). Of the 804 screening MRI scans performed on the screening cohort, 691 (86%) were unremarkable and 4 reported a lesion suspicious for TRB. The overall incidence of detecting TRB on screening MRI in the at-risk cohort was 0.5% (95% CI, 0.2%-1.3%) with a number needed to treat of 202., Conclusions: All cases of TRB in our center during the study period developed before the patient was 3 years of age and after a total of only 4 lifetime MRIs. Overall survival from TRB was not improved as a result of screening, and many false-positive results required additional, subsequent MRI scans with anesthesia., (Copyright © 2019 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.)