Self-Reported Functional Vision in USH2A-Associated Retinal Degeneration as Measured by the Michigan Retinal Degeneration Questionnaire.

Purpose: The purpose of this study was to evaluate self-reported functional vision (FV) and the impact of vision loss in patients with USH2A-associated retinal degeneration using a patient-reported outcome (PRO) measure, the Michigan Retinal Degeneration Questionnaire (MRDQ), to correlate MRDQ scores with well-established visual function measurements. Design: An observational cross-sectional study (n = 93) of participants who had Usher Syndrome Type 2 (USH2, n = 55) or autosomal recessive non-syndromic retinitis pigmentosa (ARRP; n = 38) associated with biallelic variants in the USH2A gene. Methods: The study protocol was approved by all ethics boards and informed consent was obtained from each participant. Participants completed the MRDQ at the 48-month study follow-up visit. Disease duration was self-reported by participants. One-way ANOVA was used to compare subgroups (clinical diagnosis, age, disease duration, and full-field stimulus threshold [FST] Blue-Red mediation) on mean scores per domain. Spearman correlation coefficients were used to assess associations between MRDQ domains and visual/retinal function assessments. Results: Of the study sample, 58% were female participants and the median disease duration was 13 years. MRDQ domains were sensitive to differences between subgroups of clinical diagnosis, age, disease duration, and FST Blue-Red mediation. MRDQ domains correlated with static perimetry, microperimetry, full-field stimulus testing, and best-corrected visual acuity (BCVA). Conclusions: Self-reported FV measured by the MRDQ, when applied to USH2 and ARRP participants, had good distributional characteristics and correlated well with visual function tests. MRDQ adds a new dimension of understanding on vision-related functioning and establishes this PRO tool as an informative measure in evaluating USH2A outcomes.

"If You Need a Psychiatrist, It's BAD": Stigma Associated with Seeking Mental Health Care Among Obstetric Providers in Ghana.

Purpose: Globally, the COVID-19 pandemic has brought attention to the impact of negative patient outcomes on healthcare providers. In Ghana, obstetric providers regularly face maternal and neonatal mortality, yet limited research has focused on provision of mental health support for these providers. This study sought to understand how obstetric providers viewed seeking mental health support after poor clinical outcomes, with a focus on the role of mental health stigma. Patients and Methods: Participants were 52 obstetric providers (20 obstetrician/gynecologists and 32 midwives) at two tertiary care hospitals in Ghana. Five focus groups, led by a trained facilitator and lasting approximately two hours, were conducted to explore provider experiences and perceptions of support following poor maternal and neonatal outcomes. Discussions were audiotaped and transcribed verbatim, then analyzed qualitatively using grounded theory methodology. Results: Most participants (84.3%, N=43) were finished with training, and 46.2% (N=24) had been in practice more than 10 years. Emerging themes included pervasive stigma associated with seeking mental health care after experiencing poor clinical outcomes, which was derived from two overlapping dimensions. First, societal-level stigma resulted from a cultural norm to keep emotions hidden, and the perception that psychiatry is equated with severe mental illness. Second, provider-level stigma resulted from the belief that healthcare workers should not have mental health problems, a perception that mental health care is acceptable for patients but not for providers, and a fear about lack of confidentiality. Despite many providers acknowledging negative mental health impacts following poor clinical outcomes, these additive layers of stigma limited their willingness to engage in formal mental health care. Conclusion: This study demonstrates that stigma creates significant barriers to acceptance of mental health support among obstetric providers. Interventions to support providers will need to respect provider concerns without reinforcing the stigma associated with seeking mental health care.

Design and Outcomes of a Novel Multidisciplinary Ophthalmic Genetics Clinic.

The Multidisciplinary Ophthalmic Genetics Clinic (MOGC) at the University of Michigan Kellogg Eye Center aims to provide medical and ophthalmic genetics care to patients with inherited ocular conditions. We have developed a clinical and referral workflow where each patient undergoes coordinated evaluation by our multidisciplinary team followed by discussions on diagnosis, prognosis, and genetic testing. Testing approaches are specific to each patient and can be targeted (single-gene, gene panel), broad (chromosomal microarray, whole-exome sequencing), or a combination. We hypothesize that this clinic model improves patient outcomes and quality of care. A retrospective chart review of patients in the MOGC from July 2020 to October 2022 revealed that the most common referral diagnoses were congenital cataracts, optic neuropathy, and microphthalmia, with 52% syndromic cases. Within this patient cohort, we saw a 76% uptake for genetic testing, among which 33% received a diagnostic test result. Our results support a tailored approach to genetic testing for specific conditions. Through case examples, we highlight the power and impact of our clinic. By integrating ophthalmic care with medical genetics and counseling, the MOGC has not only helped solve individual patient diagnostic challenges but has aided the greater population in novel genetic discoveries and research towards targeted therapeutics.

Intra- and post-operative risk of retinal breaks during vitrectomy for macular hole and vitreomacular traction.

BACKGROUND/OBJECTIVE: To evaluate the development of intra- and post-operative retinal breaks after pars plana vitrectomy (PPV) for macular hole (MH) and/or vitreomacular traction (VMT). SUBJECTS/METHODS: Medical records of patients who underwent PPV at Kellogg Eye Center between 1/1/2005-6/30/2018, were evaluated in three groups: group 1, MH/VMT (n = 136); group 2, epiretinal membrane (ERM) without VMT (n = 270); and group 3, diagnostic vitrectomy (DV) or vitreous opacities (n = 35). Statistical analyses were conducted using SAS. RESULTS: 20.6% of patients with MH/VMT, 8.5% of patients with ERM, and 5.7% of patients with DV or vitreous opacities had either intra-operative or post-operative breaks. Indication of MH/VMT versus ERM was a significant predictor for this outcome (p = .0112). The incidence of retinal breaks was higher in operations using 23-gauge versus 25-gauge PPV (25.0% vs. 7.4%, p < .0001). CONCLUSIONS: The presence of MH and/or VMT is a significant risk factor for retinal breaks from PPV, as is use of 23-gauge vitrectomy.

Chronic exertional compartment syndrome of the superficial posterior compartment: Soleus syndrome.

Chronic exertional compartment syndrome (CECS) represents the second most-common cause of exertional leg pain with incidence of 27-33%. CECS of the superficial posterior compartment, or soleus syndrome, is rare and has only been discussed briefly in the literature. We discuss the management of two patients with bilateral soleus syndrome or CECS of the superficial posterior compartment.