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Tinea pedis is the most common form of dermatophytosis resulting in interdigital infections. All of Us (AoU) is a National Institute of Health initiative with an emphasis on patient populations traditionally underrepresented in biomedical research.Our objective was to evaluate the burden of tinea pedis in underrepresented groups in the United States, utilising the novel AoU research program.We analysed AoU Registered Tier dataset version 5, which includes data collected between 30 May, 2017, and 1 April, 2021. We conducted a cross-sectional analysis linking survey and electronic health record (EHR) data to estimate the prevalence of tinea pedis in underrepresented groups.All of Us data release includes 329,038 participants. Of these, 251,597 (76.5%) had electronic health record data and 6932 had tinea pedis (overall prevalence, 2.76%; 95% CI, 2.69-2.82). Multivariate analyses revealed that compared with White participants, Black and Hispanic participants had a higher adjusted odds of tinea pedis (OR, 1.29; 95% CI, 1.20-1.38 and OR, 1.38; 95% CI, 1.28-1.48, respectively). Higher adjusted odds of tinea pedis were observed in underrepresented groups defined by: age =75 years (OR, 1.45; 95% CI, 1.33-1.57), LGBTQ status (OR, 1.17; 95% CI, 1.09-1.27), less than a high school education (OR, 1.22; 95% CI, 1.11-1.34), income$35,000 (OR, 1.09; 95% CI, 1.02-1.16) and physical disability (OR, 1.56; 95% CI, 1.08-1.24).Our findings are consistent with overall age, and gender-specific prevalence estimates from prior epidemiologic studies, validating the scientific consistency of the new AoU database. Additionally, there may be an increased burden of tinea pedis among Black and Hispanic individuals.

Medmont Dark-Adapted Chromatic (DAC) Perimeter enables efficient and quantifiable evaluation of rod-mediated (scotopic) vision. DAC tests rod function at multiple retinal locations, creating a topographical map of rod-mediated vision. These dynamic rod responses can be used as a functional marker to monitor disease progression and functional alterations in inherited retinal dystrophies, such as retinitis pigmentosa, Stargardt disease, cone-rod dystrophy, and choroideremia. In this chapter, we describe a protocol for the operation and analysis of the Medmont DAC in monitoring and assessing various retinal disorders.

Ocular gene therapy represents an emerging and promising therapeutic approach for the treatment of several of the inherited retinal diseases. Currently, the focus has been to investigate monogenic inherited retinal disorders. Genetic and cellular therapies can be delivered to the eye by various injection techniques, including those that are intravitreal, subretinal, and suprachoroidal. Each of these three delivery methods are discussed with regard to their historical background, indications, surgical steps, and follow-up.

Family pedigrees allow for a more thorough understanding of human genetic disorders. They are used to help establish patterns of inheritance and to identify individuals at risk of disease. Pedigree analysis can be helpful in identifying genetic disorders that demonstrate mechanisms such autosomal dominant or recessive inheritance, X-linked inheritance, and anticipation.

Rhodopsin-mediated autosomal dominant retinitis pigmentosa (RHO-adRP) is a hereditary degenerative disorder in which mutations in the gene encoding RHO, the light-sensitive G protein-coupled receptor involved in phototransduction in rods, lead to progressive loss of rods and subsequently cones in the retina. Clinical phenotypes are diverse, ranging from mild night blindness to severe visual impairments. There is currently no cure for RHO-adRP. Although there have been significant advances in gene therapy for inherited retinal diseases, treating RHO-adRP presents a unique challenge since it is an autosomal dominant disease caused by more than 150 gain-of-function mutations in the RHO gene, rendering the established gene supplementation strategy inadequate. This review provides an update on RNA therapeutics and therapeutic editing genome surgery strategies and ongoing clinical trials for RHO-adRP, discussing mechanisms of action, preclinical data, current state of development, as well as risk and benefit considerations. Potential outcome measures useful for future clinical trials are also addressed.

Dermatobia hominis, also known as the human botfly, is native to tropical and subtropical Central and South America and seen in travelers from endemic to temperate regions including the United States and Europe. Cutaneous infestation botfly myiasis involves the development of D. hominis larvae in the skin and is common in tropical locations. The distinct appearance of a cutaneous D. hominis infestation facilitates early diagnosis and intervention where cases are common. However, the identification of D. hominis in temperate regions may prove challenging due to its rarity. D. hominis may be misdiagnosed as folliculitis, an epidermal cyst, or an embedded foreign object with secondary impetigo. One should have a heightened suspicion in someone returning from a vacation in an endemic area, such as Belize. Here we describe the presentation, differential diagnosis, and treatment and encourage enhanced preventative measures among tourists when visiting tropical and subtropical regions. Additionally, we propose a novel classification system for assessing the various stages of infestation and suggest that patients reporting travel to Latin America and experiencing pain disproportionate to an insect bite should lead physicians to consider myiasis caused by D. hominis.

Racial/ethnic differences in health care are pervasive in the USA, but the literature is limited with regards to racial disparities in the treatment of dermatologic diseases.Data on the management of skin ulcers was analyzed from the National Ambulatory Medical Care Survey (NAMCS) from 2012 to 2018. Data distributions between Blacks and Whites, chi-squared statistics, and Fisher Exact Tests were computed to identify significant differences in demographic factors, patient encounter characteristics, and medication prescribed, as a function of race.Blacks were less likely than Whites to receive: care by a physician (Our data suggests that among outpatient visits for skin ulcers in the USA, racial disparities exist in the probability of seeing a physician, receiving treatment, and follow-up care. Further research must be conducted and interventions implemented in order to combat racial disparities in Black patients' access to dermatologic treatment for skin ulcers.

Background Mutations in the Kelch-like protein 7 (KLHL7) represent a recently described and, to date, poorly characterized etiology of inherited retinal dystrophy. Dominant mutations in KLHL7 are a cause of isolated, non-syndromic retinitis pigmentosa (RP). In contrast, recessive loss-of-function mutations are known to cause Crisponi or Bohring-Opitz like cold induced sweating syndrome-3 (BOS-3). In this study, the phenotype and progression of five unrelated patients with KLHL7 mediated autosomal dominant RP (adRP) are characterized. Clinical evaluation of these patients involved a complete ophthalmic exam, full-field electroretinography (ffERG), and imaging, including fundus photography, spectral domain optical coherence tomography (SD-OCT), short wavelength fundus autofluorescence (SW-AF), and near-infrared fundus autofluorescence (NIR-AF). Molecular diagnoses were performed using whole-exome sequencing or gene panel testing. Disease progression was monitored in three patients with available data for a mean follow up time of 4.5 ± 2.9 years. Protein modeling was performed for all variants found in this study in addition to those documented in the literature for recessive loss-of-function alleles causing Crisponi or Bohring-Opitz like cold-induced sweating syndrome. Results Genetic testing in three patients identified two novel variants within the 3-box motif of the BACK domain: c.472 T > C:p.(Cys158Arg) and c.433A > T:p.(Asn145Tyr). Clinical imaging demonstrated hyperautofluorescent ring formation on both SW-AF and NIR-AF in three patients, with diffuse peripheral and peripapillary atrophy seen in all but one case. SD-OCT demonstrated a phenotypic spectrum, from parafoveal atrophy of the outer retina with foveal sparing to widespread retinal thinning and loss of photoreceptors. Incidence of cystoid macular edema was high with four of five patients affected. Protein modeling of dominant alleles versus recessive loss-of-function alleles showed dominant alleles localized to the BTB and BACK domains while recessive alleles were found in the Kelch domain. Conclusions We report the phenotype in five patients with KLHL7 mediated adRP, two novel coding variants, and imaging biomarkers using SW-AF and NIR-AF. These findings may influence future gene-based therapies for adRP and pave the way for mechanistic studies that elucidate the pathogenesis of KLHL7-mediated RP.

International audience; Cyclic nucleotide-gated channel β1 (CNGB1) encodes the 240-kDa β subunit of the rod photoreceptor cyclic nucleotide-gated ion channel. Disease-causing sequence variants in CNGB1 lead to autosomal recessive rod-cone dystrophy/retinitis pigmentosa (RP). We herein present a comprehensive review and analysis of all previously reported CNGB1 sequence variants, and add 22 novel variants, thereby enlarging the spectrum to 84 variants in total, including 24 missense variants (two of which may also affect splicing), 21 nonsense, 19 splicing defects (7 at noncanonical positions), 10 small deletions, 1 small insertion, 1 small insertion-deletion, 7 small duplications, and 1 gross deletion. According to the American College of Medical Genetics and Genomics classification criteria, 59 variants were considered pathogenic or likely pathogenic and 25 were variants of uncertain significance. In addition, we provide further phenotypic data from 34 CNGB1-related RP cases, which, overall, are in line with previous findings suggesting that this form of RP has long-term retention of useful central vision despite the early onset of night blindness, which is valuable for patient counseling, but also has implications for it being considered a priority target for gene therapy trials.

Background The C677T variant of the MTHFR (5,10‐Methylenetetrahydrofolate reductase) gene is associated with increased susceptibility to homocystinuria (OMIM#236250), neural tube defects (OMIM#601634), schizophrenia (OMIM#181500), thromboembolism (OMIM#188050), and vascular diseases. Protein S deficiency is also associated with an increased risk of thromboembolism from reduced thrombin generation. In this report, we describe the case of a patient who presented with multiple retinal vein occlusions likely caused by an underlying combination of a homozygous MTHFR C677T variant and protein S deficiency. Methods We performed 8 years of continuous ophthalmic follow‐up of one patient diagnosed with central retinal vein occlusion. Peripheral blood was collected for metabolic evaluation and hypercoagulability assessment. Targeted gene sequencing was used for genetic diagnosis. Examination of the retinal vasculature was performed through dilated funduscopic examination, digital color fundus and ultrawide‐field color fundus photography, spectral domain optical coherence tomography, and fluorescein angiography. Results Sequential retinal vein occlusions and a transient ischemic attack were observed during the follow‐up period. Targeted gene sequencing by PCR identified the homozygous MTHFR C677T variant. The metabolic profile indicated low‐protein S activity, high levels of vitamin B6, and LDL cholesterol consistent with her hypercoagulable state. Prescription of low‐dose aspirin and atorvastatin for hypercholesterolemia resulted in no further neovascularization, leakage, or vein occlusion. Conclusion Retinal vein occlusions associated with the MTHFR C677T variant and protein S deficiency may signal impending systemic thromboembolic episodes and warrant aggressive preventative measures., In this report, we describe a case of sequential retinal vein occlusions followed by a transient ischemic attack in a 51‐year old Asian woman secondary to both homozygous MTHFR mutations and protein S deficiency despite controlled plasma homocysteine level. Fluorescein angiography of the right eye at the initial visit demonstrated the presence of a hypofluorescent punctate blocking defects in the superior temporal arcade along with hyperfluorescent window defect at the temporal periphery. With adequate coagulation control, the blocking defects resolved at the follow‐up visit.

The PROM1 (prominin 1) gene encodes an 865-amino acid glycoprotein that is expressed in retinoblastoma cell lines and in the adult retina. The protein is localized to photoreceptor outer segment disc membranes, where it plays a structural role, and in the retinal pigment epithelium (RPE), where it acts as a cytosolic protein that mediates autophagy. Mutations in PROM1 are typically associated with cone-rod dystrophy 12 (OMIM#3612657), autosomal dominant retinal macular dystrophy 2 (OMIM#608051), autosomal recessive retinitis pigmentosa 41 (OMIM#612095), and Stargardt disease 4 (OMIM#603786). Here we describe the first case of PROM1-associated Leber congenital amaurosis (LCA) in a 12-yr-old Asian male, caused by two not previously described deleterious frameshift variants in the compound heterozygous state. Clinical features include the presence of bull's eye maculopathy, pendular horizontal nystagmus, and photodysphoria consistent with the clinical diagnosis of LCA. The patient was evaluated using ophthalmic imaging, electroretinography, and whole-exome sequencing. Electroretinography revealed extinguished retinal activity.