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Retinitis pigmentosa (RP) is a genetically heterogeneous retinal dystrophy which results in progressive vision loss. There is scant literature on the experiences of genetic testing in patients with RP.Patients with a clinical diagnosis of RP who received genetic testing at the Wills Eye Ocular Genetics clinic between 2016 and 2020 were recruited. Telephone interviews were conducted using a semi-structured guide designed to elicit participant experiences with genetic testing. A thematic analysis was performed to describe patterns in participant responses.Twelve patients participated. Seven participants identified as female and five as male, with ages ranging from 22 to 70. Ten patients had positive genetic test results, while two had negative genetic testing. Reported motivations for genetic testing included qualification for clinical trials (58% of total participants), determination of etiology or usal gene (50%), reproductive concerns (50%), and prognostic outlook (50%). Most participants (75%) expressed satisfaction about their decision to pursue genetic testing. Participants with both positive and negative genetic testing reported persistent uncertainty regarding their prognosis for visual decline (50%). Genetic confirmation of disease leads to initiation of safety and vision-protecting health behaviors (42%).Patients with RP are generally satisfied with their testing experience, despite approaching testing with a wide range of motivations and expectations. Future research can leverage this methodology to identify targets for improvement in pre- and post-test education and counselling.

Pelvic venous disorders are a group of interrelated conditions characterized by venous incompetence. These conditions often manifest with nonspecific symptoms that overlap with many gynecological, gastrointestinal, and urologic diseases. Clinical diagnosis can be difficult, and imaging can play a vital role in differentiating etiology. Sonographic evaluation is often the first step in evaluating these symptoms. Special attention to possible underlying pelvic venous disorders can reveal characteristic findings, support diagnosis, and guide treatment. Here we review pelvic congestion syndrome, nutcracker syndrome, May-Thurner syndrome, and other venous disorders, with a specific focus on sonographic findings and considerations.

Objectives: Pelvic congestion syndrome (PCS) is a challenging diagnosis to make secondary to nonspecific presenting symptoms and imaging findings. This retrospective review aims to discern predictive factors which can guide the decision to perform catheter-based venography and prognosticate outcomes. Material and Methods: A retrospective analysis of patients who underwent catheter venography for PCS between January 2014 and December 2019 was performed. Multiple factors, including patient demographics, clinical history, pre-procedural imaging, venographic findings, and treatment outcomes 180 days post-procedure, were included in the analysis. Venographic findings were used to separate patients into two groups (positive or negative), with these factors compared across groups. Regression analysis controlled for the confounding effects of age and body mass index (BMI). Treated subjects were separated based on outcome (partial, no response, complete response, or technical failure), and comparisons were performed. Results: Eighty patients were included in the initial analysis. Two patients were excluded due to prior embolization or portal hypertension. Seventy-eight patients were included in the final analysis. Sixty-two patients had positive findings, and 16 had no venographic findings to suggest PCS. A history of prior pregnancy was a significant predictor of positive venographic results (odds ratio = 5.99, P = 0.007). BMI was significantly lower in those with positive venographic results (P = 0.047). Presence of concomitant diagnoses did not affect venographic findings or treatment outcomes. No factors predicted treatment outcomes. Five of the treated patients had subsequent successful pregnancies. Conclusion: A lower BMI supports the decision to perform venography for suspected PCS. In addition, patients who carried concomitant potentially confounding diagnoses for chronic pelvic pain were found to have similar rates of venographic findings suggesting PCS, as well as similar treatment outcomes.

OBJECTIVE To determine the feasibility of a longitudinal, electronic, patient-reported survey of steroid toxicity in patients with malignant glioma (MG). BACKGROUND Corticosteroids are frequently used for management of cerebral edema in MG, with side effects resulting from prolonged use or high dosage. Corticosteroid use is common and may negatively impact quality of life (QOL) and survival in MG. DESIGN/METHODS We prospectively enrolled patients with MG receiving neuro-oncologic care at the University of Rochester with or without their caregivers on an IRB-approved study. Subjects received 12 weekly electronic questionnaires through a secure health portal focused on symptoms of corticosteroid toxicities, dosing and functional status. Weekly toxicity scores were calculated based on the number of reported toxicities (0-17). Completed questionnaires were reviewed by a care team member to inform clinical management. Corticosteroid dosing adjustments were documented in the medical record. Feasibility was defined as an overall questionnaire completion rate of 70%. RESULTS 11 patient/caregiver pairs were enrolled (11 patients, including 9 with caregivers). Median patient age was 58. Patient tumors were glioblastoma (82%), anaplastic astrocytoma (9%) and anaplastic oligodendroglioma (9%). Phase of treatment was concurrent (55%), adjuvant (36%) and recurrence (9%). Median dexamethasone does at study start and conclusion were 4mg/day and 3mg/day. Median weekly toxicity score was 5/17 (range: 0-14). The most common toxicities were muscle weakness, sleep disturbance and weight gain and were reported by 82% of participants. Overall questionnaire completion rate was 81%. Ten percent of questionnaires resulted in clinically significant symptoms requiring follow-up from a provider. CONCLUSION Patients with MG experience frequent corticosteroid toxicities. Electronic corticosteroid toxicity monitoring is feasible in patients with MG and may lead to changes in management. Future studies are needed to assess utility of this tool and impact on QOL and survival.