Background: Chronic granulomatous disease (CGD) is a rare genetic disorder that causes primary immunodeficiency. In addition to increasing infection susceptibility in various bodily systems, several ocular manifestations have been described in males. This condition is well described in males, due to its X-linked recessive inheritance. However, here we present, to our knowledge, the first cases of X-linked CGD chorioretinitis in female carriers, possibly due to skewed X-inactivation (lyonization). Methods: Comprehensive multimodal imaging, including color fundus photography, short-wavelength autofluorescence, and spectral domain optical coherence tomography (OCT), was conducted. Functional assessment was completed with full-field electroretinogram (ff-ERG). Results: This report details two sisters with X-linked CGD carrier status, both presenting chorioretinal lesions on fundoscopy. Observed features included punched-out chorioretinal lesions, perivascular atrophy, and peripheral pigment changes. Autofluorescence imaging confirmed hypoautofluorescent areas correlating with chorioretinal atrophy, and OCT revealed retinal collapse and ellipsoid zone loss in one sibling. Despite these structural changes, visual function remained stable with minimal progression over time. Subsequent serial ERGs did not show progression. Conclusions: The findings highlight that skewed X-inactivation may contribute to retinal changes in asymptomatic CGD carriers, underscoring the need for awareness of potential ocular manifestations in X-linked genetic disorders in female carriers.

Stigma toward anal sex impedes engagement in health services that are vital to Ending the HIV Epidemic. We evaluated a stigma-reduction training to build HIV worker capacity to address anal pleasure and health during HIV service encounters in China. In a sequential explanatory mixed-methods design, we assessed the training’s preliminary impact on anal health promotion activities and, based on the Theoretical Domains Framework , mechanisms of action among 51 health workers. We conducted descriptive statistics, bivariate comparisons, and thematic analyses based on pre/post-training online surveys and post-training in-depth interviews. The frequency of anal health promotion activities among the 38 participants who completed pre/post-training surveys increased by 7–8% of the scale range, but not significantly ( p -values between 0.06 and 0.08). Mechanisms for discussing anal sex ( knowledge , skills , role responsibility , self-efficacy , organizational acceptability , and positive emotions ) shifted from baseline (5%-36% range), primarily due to boosts in knowledge and skills (28% and 36%, all p < .05). Additional mechanisms of comfort addressing sexual orientation , anal health , and sex-related concerns also increased (4–14% range, all p < .05). Qualitative analysis revealed mechanistic themes of heightened empathy, weakened stereotypes, and a shift toward accepting role responsibility to discuss anal sex. Gay and bisexual workers reported notable personal growth to optimize their own anal health. Although knowledge and communication skills increased provider confidence, some participants remained hesitant to initiate discussion during HIV service encounters. For most participants the theoretically-informed training activities operated as hypothesized, to enhance mechanisms that could increase provider-initiated discussion of anal pleasure and health.

Stigma toward anal sex hinders HIV prevention by limiting equitable access to sexual health services. To mitigate this hindrance, we developed a clinician- and community-informed package of anti-stigma implementation strategies using the Behaviour Change Wheel and its Capability, Opportunity, Motivation, Behaviour (COM-B) Model. The package, “Partnering to Enhance Anal Health Communication and HIV-related Evidence-based Services” (PEACHES 1.0), combined training strategies with quality improvement (QI) strategies. We implemented a pilot evaluation of PEACHES 1.0 among HIV workers in the Southern USA and assessed pre/post-shifts in participants’ self-reported proximal outcomes (mechanisms of action like knowledge, comfort, skills) and their frequency of anal sex-specific health promotion. In two clinics that received organization-specific QI meetings, we also assessed patient uptake of anal sex-related HIV services based on aggregated medical record data. We conducted paired t -tests on longitudinal survey responses, thematic analysis of longitudinal in-depth interviews and open-ended survey responses, and non-statistical comparison of rates for patient uptake of services. Post-PEACHES, HIV workers reported 8% to 54% improvements (all p < .01) in proximal outcomes like knowledge, comfort, and skills. Frequency of self-reported anal health promotion increased 15% to 25% ( p < .01). Clinics that received QI sessions differed in their QI engagement and had diverging patient uptake of services. Clinic A, with greater QI engagement, saw a 60% increase in anorectal STI screening, and a 28% increase in new PrEP prescriptions; Clinic B, with less engagement, saw 17% and 18% decreases, respectively. Qualitative findings indicated that the QI strategies—placing pleasure-inclusive visual cues linked to a website of informational resources in the clinic environment and clinic-specific QI meetings—enabled workers to destigmatize discussions about anal sex within HIV services. Future research should standardize elements of QI, and evaluate scalability with fidelity as well as the potential impact on client outcomes in a fully-powered hybrid implementation-effectiveness trial.

Background: Inherited retinal dystrophies are a heterogeneous group of progressive disorders impacting photoreceptor function, often limiting the usefulness of standard electroretinography in advanced cases. Full-field stimulus test (FST) testing has become a sensitive psychophysical technique for detecting residual visual function when traditional electrophysiology is non-recordable. This study evaluated the ability of chromatic FST to differentiate rod–cone from cone photoreceptor dysfunction in patients with genetically confirmed inherited retinal dystrophies. Methods: Cross-sectional FST data were analyzed from 39 patients (mean age 45.7 ± 20.0 years) with genetically confirmed inherited retinal dystrophies at a tertiary academic center. All participants underwent standardized FST testing using white, red, and blue stimuli. Patients were classified into rod–cone dystrophy (n = 27) or cone dystrophy (n = 12) groups based on genetic and clinical criteria. Group comparisons focused on FST thresholds and especially blue–red threshold differences as markers of photoreceptor-mediated function. Bonferroni correction was applied to adjust for multiple comparisons across four primary FST parameters. Additional analyses by genotype were performed with nonparametric tests. Results: Eight different genetic mutations were represented, including Phosphodiesterase 6A (PDE6A) (n = 10), Rhodopsin (RHO) (n = 7), Phosphodiesterase 6B (PDE6B) (n = 6), Cyclic Nucleotide-Gated Channel Beta 1 (CNGB1) (n = 4), Cyclic Nucleotide-Gated Channel Alpha 3 (CNGA3) (n = 4), Nuclear Receptor Subfamily 2 Group E Member 3 (NR2E3) (n = 4), Guanylate Cyclase 2D (GUCY2D) (n = 2), and Cyclic Nucleotide-Gated Channel Beta 3 (CNGB3) (n = 2). Blue–red FST threshold differences exhibited moderate group discrimination in uncorrected analysis, with rod–cone dystrophies averaging −8.35 ± 10.37 dB and cone dystrophies −11.20 ± 14.60 dB. The area under the receiver operating characteristic curve for blue–red difference was 0.74 (95% CI: 0.59–0.90), with 75% sensitivity and 70.4% specificity at a −10 dB cutoff. However, no chromatic FST parameter maintained statistical significance between groups after Bonferroni correction. Inter-eye FST correlation was high (r = 0.758, p < 0.001), supporting test reliability. Conclusions: Chromatic FST testing provides a practical and sensitive means to assess photoreceptor function in advanced inherited retinal dystrophies, particularly when standard electrophysiologic methods are uninformative. Although the blue–red threshold difference offers moderate discrimination between rod–cone and cone dystrophies in uncorrected analysis, no chromatic parameter reached statistical significance after adjustment for multiple testing. Chromatic FST should be considered a supplementary approach for clinical monitoring and therapeutic studies in advanced retinal dystrophies, with further validation needed in larger cohorts.