The Silent Masquerade: Clinical and Imaging Features of Asymptomatic Vitreoretinal Lymphoma.

PURPOSE: To report and characterize ocular features of asymptomatic vitreoretinal lymphoma (VRL) associated with primary central nervous system lymphoma (PCNSL), by examining clinical and multimodal imaging characteristics and comparing with symptomatic VRL. DESIGN: Retrospective cross-sectional study. METHODS: Patients with cytologically or molecularly confirmed VRL were included. Patients were classified into three groups: primary VRL (PVRL), symptomatic VRL associated with PCNSL (PCNSL-S), or asymptomatic VRL associated with PCNSL (PCNSL-AS). Data encompassing demographics, visual symptoms, visual acuity (VA), and imaging characteristics were collected. Cross-sectional analyses of quantitative and categorical variables among groups were performed with one-way ANOVA and multinomial linear regression analyses. RESULTS: The study included 104 eyes from 56 patients with VRL. Twenty-nine patients (52%) were diagnosed with PVRL, and 27 patients (48%) were diagnosed with VRL associated with PCNSL. Among these, 17 (63%) reported visual symptoms (PCNSL-S), whereas 10 (37%) were asymptomatic (PCNSL-AS). PCNSL-AS patients exhibited better VA than PVRL patients (0.11 vs. 0.76 LogMAR, p=0.04) and distinct clinical features, with lower rates of anterior segment involvement (odds ratio [OR]=0.02; 95% confidence interval [CI] 0.12-0.84; p<0.01) and vitritis (OR= 0.32; 95%CI 0.11-0.91; p=0.03). Subretinal infiltration was less common in PCNSL-AS cases compared to PVRL (OR= 0.14; 95%CI 0.02-1.11; p=0.06) and PCNSL-S (OR: 0.08; 95%CI 0.01-0.69 p=0.05) and was associated with worse VA (estimate=0.55 LogMAR; 95%CI 0.29-0.8; p<0.01). CONCLUSION: This study describes distinctive clinical and imaging features of asymptomatic VRL associated with PCNSL, characterized by better VA and less severe ocular involvement. The findings highlight the pivotal role of multimodal imaging in facilitating early detection of VRL in the staging of PCNSL. Future guidelines for PCNSL management should consider the necessity of diagnosing patients with asymptomatic VRL.

Novel IMPG2 variant causing adult macular vitelliform dystrophy: A case report.

INTRODUCTION: Adult-onset vitelliform macular dystrophy (AVMD) is an inherited maculopathy characterized by metamorphopsias and decrease in visual acuity occurring between the fourth and the sixth decade. It is characterized by an 'egg yolk' macular lesion eventually evolving towards foveal atrophy and fibrosis. It is usually an autosomal dominant inherited disorder with variable penetrance, mainly related to variants in BEST1, PRPH2, IMPG1, and IMPG2 genes. CASE DESCRIPTION: A 47-year-old woman complaining of "wavy" vision was referred to our clinic. Her past medical history and reported family history did not reveal any ocular disease. Complete ophthalmological evaluation was performed. Funduscopic examination and multimodal imaging revealed a round vitelliform lesion in both eyes, leading to a diagnosis of AVMD. Genetic analysis revealed a novel, likely pathogenetic, heterozygous c.478G > T (p.Glu160Ter), (NM_016247) variant in the IMPG2 gene. DISCUSSION: Our patient exhibits a novel pathogenetic variant in a gene associated with AVMD. Heterozygous variants in the IMPG2 gene have been reported in multiple individuals with vitelliform macular dystrophy, with an autosomal dominant mode of inheritance. Genetic screening is essential to characterize patients, to predict vision loss in patients with a positive family history and to characterize eligible patients for new potential emerging therapies. Genotype-phenotype correlation studies are needed to have a clearer picture of pathogenetic mechanisms. Our study characterizes the phenotype related to a novel IMPG2 pathogenic variant through multimodal imaging.

Lifetime Cannabis Use Disorder Is Not Associated With Lifetime Impulsive Behavior and Severe Violence in Patients With Schizophrenia Spectrum Disorders From a High-Security Hospital.

PURPOSE/BACKGROUND: The link between substances of abuse, impulsivity, and violence in psychotic patients remains unclear. This study aims at unraveling whether cannabis use disorder is associated with violent and/or psychotic behavior in patients who are hospitalized in a high-security hospital. METHODS/PROCEDURES: We conducted a cross-sectional retrospective study in 124 patients with schizophrenia spectrum disorders admitted to a high-security hospital. Lifetime violent behavior was assessed using the History of Aggressive Behavior Form-Subject of the MacArthur Violence Risk Assessment Study and impulsivity using the Psychopathy Checklist-Revised (considering items: "proneness to boredom," "lack of self-control," and "impulsive thoughtless gestures"). Substance use disorder was diagnosed according to Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition criteria. Positive and Negative Syndrome Scale was also administered. FINDINGS/RESULTS: Violent and nonviolent psychotic patients showed similar prevalence of cannabis use disorder. Alcohol and cocaine use disorders were more prevalent among violent psychotic patients. Cannabis use disorder was not associated with any dimension of impulsivity, whereas alcohol use disorder was positively correlated to impulsive thoughtless gestures (standardized ß = 0.213, P = 0.027) and cocaine use disorder with proneness to boredom (standardized ß = 0.290, P = 0.002). Finally, logistic regression analysis revealed that, unlike cannabis and cocaine use disorders, alcohol use disorder (odds ratio, 3.964; 95% confidence interval, 1.729-9.087; P = 0.001) was a factor associated with violence. IMPLICATIONS/CONCLUSIONS: These findings show that cannabis and alcohol are largely abused and coabused by psychotic patients with a propsensity for violence, but only alcohol is associated with impulsive and violent behavior. Therefore, especially alcohol abuse should be seriously considered by practitioners when evaluating the dangerousness of patients with schizophrenia spectrum disorders.