Vitreoretinal lymphoma: the importance of cerebral spinal fluid evaluation at initial diagnosis.

BACKGROUND/AIMS: To determine if patients with vitreoretinal lymphoma (VRL) and concomitant central nervous system lymphoma (CNSL) may present without brain MRI findings, but possess cerebrospinal fluid (CSF) suspicious for lymphoma. METHODS: This was a retrospective, single-centre, observational study evaluating patients with a diagnosis or suspicion of VRL seen at Memorial Sloan Kettering Cancer Center between 2006 and 2024. Patients were included if the final diagnosis was biopsy-proven CNSL and both MRI brain with and without contrast±CSF evaluation (obligatory for inclusion if MRI negative) were performed at the initial diagnostic workup. Patients were excluded if CNS disease treatment (brain, spine or CSF) preceded ocular disease. Patients with prior extra-CNS disease were included. Clinical records and radiographic imaging were retrospectively reviewed and relevant data were recorded for each patient. We evaluated the proportion of patients with MRI negative and CSF suspicious for lymphoma. Subgroup analysis included imaging features, pathology, treatment and disease course. RESULTS: We identified 65 patients. Of the 65 patients at the presentation of VRL, 30 had negative MRI brain and CSF, 16 had positive brain MRI and negative CSF and 8 had both positive MRI brain and CSF. 11 (16.9%) had CSF suspicious for lymphoma without positive findings on MRI of the brain. In this subgroup, the median age was 66 years (range 49-82) and 36% were female. 86% of these patients were asymptomatic neurologically. 73% underwent systemic treatment. At a mean 3 years follow-up, 91% of patients were living. CONCLUSION: In patients with suspected VRL, it is possible to have CSF test positive for lymphoma in the context of negative brain MRI. This suggests, when evaluating VRL patients for concomitant CNS disease, CSF evaluation leads to earlier detection and systemic treatment, even when MRI brain findings are negative. In our cohort, an absence of CSF evaluation in the context of negative brain MRI could have missed 16.9% of patients with CNS lymphoma.

RB1 circulating-tumor DNA in the blood of Retinoblastoma patients increases in untreated patients.

PURPOSE: Circulating tumor DNA (ctDNA) in plasma has been identified in many cancers, including retinoblastoma at diagnosis. We have previously shown that with treatment (enucleation or ophthalmic artery chemosurgery (OAC)) all ctDNA disappears; and if there is persistent plasma ctDNA after treatment metastases develop. The purpose of this study was to determine how the ctDNA RB1 variant allele frequency (VAF) changes in patients with retinoblastoma who have delayed treatment. METHODS: Circulating tumor DNA RB1 was detected and VAF was measured at diagnosis and again prior to any intervention at some time later ranging from 2 to 28 days. RESULTS: Four patients with five ctDNA RB1 mutations were detected at diagnosis and VAF was increased on re-evaluation of the same RB1 mutations in ctDNA. CONCLUSION: In this small cohort, every patient (4) and every RB1 mutation (5) plasma level VAF% increased when measured at two time periods before treatment was instituted suggesting that growing tumors demonstrate increasing plasma ctDNA.

Case Report: Cavernous Sinus Syndrome as the Initial Presentation of Multiple Myeloma.

Multiple myeloma (MM) is the second most common hematologic malignancy and most common primary bone malignancy. Ocular manifestations of MM are extremely rare and may be the first presentation leading to diagnosis. Ophthalmologists routinely encounter cavernous sinus syndrome, and there is a wide range of possible etiologies. Here, we present a case of a patient presenting with diplopia, ptosis, and ophthalmoplegia found to have a cavernous sinus plasmacytoma with systemic workup consistent with MM. MM is a rare cause of cavernous sinus syndrome and should be considered in the setting of a skull base mass.

Measuring Contrast Sensitivity Function With Active Learning in Retinal Vein Occlusion: A New Endpoint of Visual Function.

BACKGROUND AND OBJECTIVE: To characterize contrast sensitivity function (CSF) in patients with retinal vein occlusion (RVO) compared to age-matched controls using novel computerized contrast sensitivity (CS) testing with active learning algorithms. PATIENTS AND METHODS: CSF was prospectively measured in RVO patients with visual acuity (VA) greater than 20/200 and age-matched controls using the novel Manifold Contrast Vision Meter implementing quantitative CSF testing. Outcomes included area under the Log CSF (AULCSF), contrast acuity (CA), and CS thresholds at 1, 1.5, 3, 12, and 18 cycles per degree (cpd). A sub-analysis was performed on RVO eyes with good acuity (VA ≥ 20/30). RESULTS: Twenty-two eyes with RVO and 63 control eyes were included. Mean AULCSF (± standard deviation) in RVO eyes was 0.817 (0.28) compared to 1.217 (0.28) in controls (P < .0001). Mean contrast acuity in the RVO group was 1.054 (0.19) versus 1.286 ± 0.16 in controls (P < .0001). For individual spatial frequencies, CS loss at 6.0 cpd was most prominent in the RVO group. In 10 RVO eyes with VA of 20/30 or greater, mean AULCSF was 0.978 versus 1.217 in control eyes. (P = .008). CONCLUSIONS: CSF in eyes with RVO was found to be significantly reduced compared to age-matched controls. CSF seems to be a promising visual function endpoint with potential applications in clinical practice and future clinical trials. [Ophthalmic Surg Lasers Imaging Retina. 2020;51:392-400.].

Evaluation of choroidal lesions with swept-source optical coherence tomography.

AIMS: The aim of our study was to image choroidal lesions with swept-source optical coherence tomography (SS-OCT) and to identify the morphological characteristics associated with optimal visualisation. METHODS: This was a prospective, cross-sectional study. Patients with choroidal melanocytic lesions <3 mm in thickness on B-scan ultrasonography were recruited. All participants underwent SS-OCT. On SS-OCT we evaluated qualitative (eg, lesion outline, detection of scleral-choroidal interface and quality of the image) and quantitative (measurement of maximum lesion thickness and the largest basal diameter) parameters. Probability of optimal image quality was examined using ordered logistic regression models. The main outcome measure was quality of the choroidal lesion images on SS-OCT, defined as: optimal, suboptimal or poor. RESULTS: We included 85 choroidal lesions of 82 patients. There were 24 choroidal lesions (29%) for which image quality was classified as optimal, 31 lesions (37%) as suboptimal and 30 lesions (36%) as poor. The factors associated with optimal image quality were distance closer to the fovea (OR 0.76, p<0.001), posterior pole location (OR 3.87, p=0.05), lower ultrasonography thickness (OR 0.44, p=0.04), lighter lesion pigmentation (OR 0.12, p=0.003) and smaller lesion diameter (OR 0.73, p<0.001). In the multivariable analysis, closer distance to the fovea (OR 0.81, p=0.005), lighter lesion pigmentation (OR 0.11, p=0.01) and smaller lesion diameter (OR 0.76, p=0.006) remained statistically significant. CONCLUSION: SS-OCT is useful in imaging most choroidal melanocytic lesions. Image quality is best when the choroidal lesion is closer to the fovea, has a smaller diameter and a lighter choroidal pigmentation.