Sarcoidosis is a multi-organ granulomatous inflammatory disease of unknown etiology, exhibiting significant regional and ethnic variability in disease extent and clinical features. To investigate the clinical characteristics of sarcoidosis among Jewish and Arab populations in Israel and to compare these findings with global data. We conducted a retrospective review on sarcoidosis patients at Rambam Health Care Campus during 2015-2023. Patients were categorized by ethnicity. Their demographic and clinical data were collected and analysed using appropriate statistical methods. The study included 284 patients (149 Jewish, 135 Arab). Jewish patients had a higher mean age at diagnosis. Diagnosis was biopsy-proven in 82% of cases, with endobronchial ultrasound being the most common diagnostic procedure. Lung involvement was present in 88% of patients, with no significant difference between Jewish and Arab populations. No significant differences were found in pulmonary function tests, blood tests, or Scadding stage distribution between the ethnic groups. When comparing the Jewish and Arab populations to the global data, lung involvement was significantly less frequent in the Jewish population. The Israeli population, both Jewish and Arab populations, had a significantly higher rate of joint manifestations whereas eye and skin manifestations appeared to be significantly lower in the Israeli population compared to global data. This study highlights the diverse clinical presentations of sarcoidosis among Israeli populations compared to world data, with notable differences between Jewish and Arab patients, and within subgroups of these populations.

Background:Vitamin A deficiency (VAD) is highly prevalent in developing countries, especially among malnourished children, with complications like blindness and deaths occurring in about half of those deficient in vitamin A. In Sudan, Quranic schools (Khalwa) have a large number of students, many of whom receive poor nutritional support. This study aims to highlight VAD prevalence and knowledge and to assess the associated dietary habits among this community.Methods:This was a cross-sectional study that used cluster random sampling and was conducted in a district of Khartoum state, with 332 participants included. Data were collected by a self-structured questionnaire, presented using descriptive statistics, and analyzed by SPSS v26.Results:Almost half of the students in this study are between the ages of 6 and 17 years. Most of their fathers were farmers, and the average daily income was low. Only 30.1% reported eating at least three types of food, with an overall lack of knowledge about vitamin A. Fifty-five (16.5%) had night blindness, of which 30 had conjunctival xerosis, 20 had Bitot’s spots, and 7 had conjunctival congestion. Eighty (24.1%) and 65 (19.6%) students had respiratory disease and diarrhea in the last two weeks, respectively. Local data show almost the same prevalence of night blindness in this group.Conclusion:Poor vitamin A knowledge and poor dietary habits are common among the residents of Quran-boarding-schools, with about one-sixth of them having night blindness. This necessitates health education and nutritional support for this community.

PurposeThe purpose of this study was to investigate the impact of Helicobacter pylori (H. pylori) infection on ocular surface homeostasis, including dry eye symptoms, ocular microbiota alterations, and related immune responses.MethodsThirty-one H. pylori-positive (Hp_pos) and 30 H.pylori-negative (Hp_neg) subjects underwent dry eye assessments, including the Schirmer I test, noninvasive keratography first and average breakup times (NIKf-BUTs and NIKav-BUTs), tear meniscus height, meibomian gland loss, and the Ocular Surface Disease Index (OSDI). Sterile swabs were used to collect samples from each eye of subjects for 16S rRNA sequencing. Additionally, a murine H.pylori infection model was established to evaluate dry eye phenotypes and immune responses in the lacrimal gland.ResultsCompared with Hp_neg subjects, Hp_pos subjects showed significantly reduced Schirmer I test results, NIKf-BUT, and NIKav-BUT, along with higher OSDI scores (all P < 0.05), whereas tear meniscus height and meibomian gland loss did not differ between the two groups. The ocular surface microbiota of Hp_pos subjects exhibited altered alpha and beta diversity, with 10 enriched genera (dominated by Veillonella and Capnocytophaga), which were characteristically associated with dry eye manifestations. In the murine model, infected mice at 6 weeks post-infection displayed aqueous tear deficiency, corneal epithelial barrier impairment, lacrimal gland infiltration of CD4+ and CD45+ T lymphocytes, and upregulated proinflammatory cytokines (IFN-γ, IL-17A, IL-4, TGF-β, TNFα, IL-6, and IL-1β). However, no significant differences were observed at 2 or 4 weeks post-infection.ConclusionsThe H.pylori infection disrupts tear secretion and ocular surface microbiota, potentially via inducing T lymphocyte infiltration and lacrimal gland inflammation, contributing to dry eye pathogenesis.

ObjectiveTo validate a crowdsourced, image-based morbidity hotspot method for surveillance of neglected tropical diseases.MethodsWe conducted our crowdsourced surveillance pilot implementation study between November 2022 and October 2024 in 45 communities across three Nigerian states, covering a population of 477 138 people. Three additional states, where the project was not implemented but surveillance data obtained, served as control. Residents self-reported suspected symptoms by using smartphones to capture and transmit images of skin and eye manifestations via digital communication platforms. An expert panel then examined the images to confirm signs of neglected tropical diseases. We used frequency and percentages to present data; we also compared incidence data from both pilot and control locations.FindingsIn total, 512 subjects submitted images, either themselves or via a community focal point. Their mean age was 53 years (standard deviation: 20.7). Forty-six percent (234/512) were women and 55% (281/512) were farmers. Notably, 43% (218/512) had experienced symptoms of neglected tropical diseases for 1–5 years before our study and 85% (437/512) had not received any intervention. Of all photos submitted, 75% (386/512) showed signs of neglected tropical diseases. In Ondo state crowdsourced surveillance led to an average of 54.3 monthly reports, versus traditional surveillance which averaged 6.8 (P < 0.01). Cost analysis showed that crowdsourced surveillance cost 72.4 United States dollars per case detected.ConclusionOur surveillance method outperformed traditional surveillance, showing its promise for enhancing neglected tropical disease surveillance. The method’s ability to detect emerging conditions and support post-elimination surveillance reinforces its value.

ABSTRACTMedicine is a dynamic field that constantly discovers new links between different specialties. Dermatology and Ophthalmology are two related branches of medicine, having many similarities and interactions. The skin and the eyes both encounter various environmental challenges, such as ultraviolet radiation, allergens, infections, and trauma, that can alter their structure and function. Furthermore, many diseases that affect the whole body can also involve the skin and the eyes. The article examines the interrelated world of ophthalmology and dermatology, focusing on genetic diseases, autoimmune diseases, systemic disorders, infections and drug reactions that have both skin and eye manifestations. The article discusses conditions such as diabetes, Stevens‐Johnson syndrome, lupus erythematosus, vasculitis, and many more. A comprehensive knowledge about the effects of these diseases is essential for providing holistic medical care to the patients. Therefore, it is important for dermatologists and ophthalmologists to work together more frequently to provide optimal care for patients who suffer from such conditions. The article also emphasizes the role of integrative medicine in improving the health and well‐being of patients with skin and eye problems.

This study introduces a fully automated approach using deep learning-based segmentation to select the conjunctiva as the region of interest (ROI) for large-scale, multi-site clinical trials. By integrating a precise, objective grading system, we aim to minimize inter- and intra-grader variability due to perceptual biases. We evaluate the impact of adding a "horizontality" parameter to the grading system and assess this method's potential to enhance grading precision, reduce sample size, and improve clinical trial efficiency. We analyzed 29,640 images from 450 subjects in a multi-visit, multi-site clinical trial to assess the performance of an automated grading model compared to expert graders. Images were graded on a 0-4 scale, in 0.5 increments. The model utilizes the DeepLabV3 architecture for image segmentation, extracting two key features-horizontality and redness. The algorithm then uses these features to predict eye redness, validated by comparison with expert grader scores. The bivariate model using both redness and horizontality performed best, with a Mean Absolute Error (MAE) of 0.450 points (SD=0.334) on the redness scale relative to expert scores. Expert graded scores were within one unit of the mean grade in over 85% cases, ensuring consistency and optimal training set for the predictive model. Models incorporating both features outperformed those using only redness, reducing MAE by 5-6%. The optimal generalized model improved predictive accuracy with horizontality such that 93.0% of images were predicted with an absolute error less than one unit difference in grading. This study demonstrates that fully automating image analysis allows thousands of images to be graded efficiently. The addition of the horizontality parameter enhances model performance, reduces error, and supports its relevance to specific Dry Eye manifestations. This automated method provides a continuous scale and greater sensitivity to treatment effects than standard clinical scales.

BackgroundCongenital cytomegalovirus (CMV) infections are associated with eye manifestations, especially in patients with systemic disease. However, there are no ophthalmic screening guidelines for infants with congenital CMV.MethodsRetrospective review of pediatric patients (< 18 years old, 2010–2023) with a diagnosis of congenital CMV and at least 1 eye examination. Gestational age at birth, systemic findings, and ophthalmic findings at initial and final eye examinations were collected.ResultsSeventy-two patients (47% male) with congenital CMV underwent initial eye examination at 2.1 ± 2.9 years of age (median 0.3 years). Thirty-one patients (43%) only had one eye examination while 41 patients had follow-up (1 month-19 years). Fifty-two patients (72%) had systemic findings, most commonly hearing loss (50%), neurologic abnormalities (39%), and developmental delay (38%). Patients born < 36 weeks gestation (n = 15) had a higher rate of systemic findings, neurologic abnormalities, developmental delay, and intrauterine growth restriction compared to full-term patients. Twenty-four (33%) patients had ocular findings and all also had systemic manifestations. Strabismus (26%) and optic nerve abnormalities (17%) were most common. Only 2 patients (3%) were diagnosed with retinitis, which was detected at initial examination.ConclusionsOne-third of patients with congenital CMV had ocular findings in conjunction with systemic manifestations. Retinitis was rare and detected on initial eye examination. While initial screening for retinitis is important, patients with systemic sequelae of congenital CMV are at risk for other eye manifestations and require continued follow-up.

Objective: Pulmonary involvement is commonly observed in anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV), presenting with manifestations such as diffuse alveolar hemorrhage, inflammatory infiltrates, pulmonary nodules, and tracheobronchial disease. We aimed to identify distinct subgroups of tracheobronchial disease patterns in patients with anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) using latent class analysis (LCA), and to evaluate their clinical characteristics and outcomes. Methods: We conducted a retrospective cohort study using electronic medical records of patients aged >18 years diagnosed with AAV and tracheobronchial disease between 1 January 2002 and 6 September 2022. Patients with follow-up <6 months were excluded. LCA was employed to identify disease subtypes based on 10 pre-defined indicators. Maximum likelihood estimation with 10 repetitions per model ensured robustness in model selection, guided by the Akaike information criterion (AIC). Patient and disease characteristics were summarized and compared across predicted classes. Statistical analyses included Kruskal-Wallis and Fisher's exact tests for continuous and categorical variables, respectively. The primary outcome was time to relapse of the tracheobronchial inflammation after starting immunosuppressive medication, analyzed using the Kaplan-Meier method and log-rank tests. Secondary outcomes included severity of pulmonary disease on pulmonary function tests, endoscopic interventions, tracheostomy, or mortality during follow-up. Results: Among 136 identified AAV patients assessed for tracheobronchial involvement, 111 (81.6%) were included after excluding 25 without tracheal or bronchial disease. Predominant findings included subglottic stenosis (91.0%), lower tracheal stenosis (16.2%), and bronchial stenosis (17.1%). LCA identified a three-class model as optimal: tracheal predominant (n = 94), tracheobronchial (n = 12), and bronchial predominant (n = 5). Tracheal predominant patients showed reduced risk of ear, eye, and lower respiratory manifestations, with milder obstruction on pulmonary function testing (PFT). Tracheobronchial-class patients were prone to saddle nose deformity (50%), extensive lower respiratory involvement (91.7%), and renal disease (66.7%). Bronchial predominant patients exhibited severe obstructive disease (median forced expiratory volume in 1 s (FEV1)% predicted: 58, IQR 34-66; FEV1/forced vital capacity (FVC) ratio: 56.9, interquartile range (IQR) 43-63.3) but lacked systemic AAV manifestations. LCA classes did not predict outcomes such as endoscopic intervention, tracheostomy, recurrent tracheobronchial narrowing, or mortality. Conclusion: LCA shows promise in subtype stratification of AAV patients, yet its utility in predicting outcomes and guiding treatment remains limited based on our analysis. Future studies with enhanced phenotypic data and larger cohorts are warranted to improve predictive accuracy.

Primary Vitreoretinal Lymphoma: A Comprehensive Retrospective Analysis of 65 Cases at Two European Centers

Dry eye disease is a prevalent condition affecting 5%-50% of the global population. Animal model investigations play a crucial role in understanding its underlying mechanisms. Therefore, we developed a mouse model of dry eye disease by surgically removing both the extraorbital lacrimal glands (ELG) and intraorbital lacrimal glands (ILG) to investigate the ocular surface pathology in the context of aqueous deficiency dry eye. Two weeks post operation, the mice exhibited severe dry eye manifestations, including reduced tear secretion, corneal epithelial irregularities, positive fluorescein sodium staining, and neovascularization. Histological examination via hematoxylin and eosin staining revealed inflammatory cell infiltration and corneal epithelium dysplasia. Immunofluorescence staining and quantitative reverse-transcription polymerase chain reaction revealed decreased expression of the normal corneal epithelial biomarkers K12 and Pax6 and increased expression of Sprr1b in the corneal epithelium. These ocular manifestations indicated abnormal corneal epithelial differentiation. Furthermore, immunofluorescence staining of Ki67 revealed the increasing cell proliferation. In conclusion, the ELG plus ILG excision model proved suitable for studying changes in the ocular surface and elucidating the mechanisms underlying aqueous deficiency dry eye.

To investigate the effect of cyclosporine A 2% eye drop following trabeculectomy on intraocular pressure (IOP) and surgical success compared to postoperative steroid drop. Prospective, randomized clinical trial in an institutional setting. Forty patients with primary open-angle glaucoma and candidates for trabeculectomy were included in this study. Standard fornix-based trabeculectomy augmented with mitomycin C was performed for all patients. None of the included subjects had a history of prior laser or intraocular surgery in that eye. All included subjects were randomly assigned to either postoperative cyclosporine A 2% or betamethasone 0.1% eye drops. IOP measured by applanation tonometer and surgical success rate. Seventy-five potentially eligible POAG patients were seen during the study period, and 40 met the study criteria and were randomly assigned to one of the study groups. Patients in the cyclosporine A 2% group had consistently lower IOP, fewer glaucoma medications, and higher success rates for at least 24 months after surgery ( P < 0.0001). Complete success was more frequent in the cyclosporine group. Moreover, the cyclosporine A group had more diffuse and elevated bleb with less vascularity in the first 3 months after surgery ( P ≤ 0.01). This was paralleled with fewer dry eye signs and symptoms in the cyclosporine group in the first 3 months ( P < 0.03). Postoperative cyclosporine A 2% eye drop can be used instead of steroid drops and is associated with improved surgical success and decreased dry eye manifestations.

Hereditary transthyretin amyloidosis (ATTRv) is an autosomal dominant inherited systematic disease primarily affecting the peripheral and autonomic nervous system, heart, eyes and kidney. Over 140 variants have been identified worldwide, with the Gly103Arg variant reported exclusively in China. This variant is characterized by early onset eye manifestations, making accurate and timely diagnosis difficult. Therefore, we conducted a case study and literature review to investigate the clinical characteristics of the Gly103Arg variant in hereditary transthyretin amyloidosis. We identified three patients and an asymptomatic carrier in a four-generation family by sequencing the TTR gene. The proband underwent a lumbar puncture, electromyography, abdominal fat biopsy, among other tests. Case reports of Gly103Arg variant were retrieved through a literature search for an analysis of clinical characteristics. The study included clinical data of 44 patients. Our literature review collected data on 41 patients and the present report supplied 3 patients with the Gly103Arg variant. The mean age at onset was 39.1 ± 4.27 years (range 30-47 years) with a female ratio of 52.3%. All cases were reported in China, predominantly in southern regions, especially Yunan and Guizhou Provinces. The initial manifestation was blurred vision, except for one case presenting with numbness in the upper extremities. All of them had vitreous opacity; 17 cases had peripheral neuropathy,6 cases had autonomic neuropathy, and 3 cases had cardiopathy. No disease-related deaths have been reported to date. The Gly103Arg variant is unique to the Chinese population, frequently occurring in southern China. The main clinical manifestations are blurred vision, vitreous opacity, and neuropathy, with cardiopathy being rare. ATTRv should be considered if a patient diagnosed with CIDP does not respond to related therapy. Abdominal fat biopsy is a convenient and accurate diagnostic method.

ABSTRACT To report on the occurrence and characteristics of eye manifestations and determine the predictors of permanent vision loss (PVL) in patients with giant cell arteritis. Case-control study. Retrospective cohort study of 258 patients diagnosed with giant cell arteritis (GCA) over a 20- year period at a single institution. Eighty nine of 258 patients (34.5%) with GCA had vision symptoms and 56 (21.7%) developed PVL. Acute loss of vision with no preceding ocular symptoms occurred in 28.5%; for those with symptoms, median time to vision loss was 4.5 days. Bilateral clinical eye involvement was present in 38%, mostly anterior ischemic optic neuropathy (AION), rarely vascular occlusions. Vision loss was severe with acuity of count fingers or less or mean deficit −20 decibels or less in at least one eye in 80% of patients with PVL. Following initiation of GC treatment, 23% of patients continued to have further vision loss and only 5% showed improvement. We found predictors of PVL by multivariate analysis to be increased age (OR 1.05, p0.040), jaw claudication (OR 2.29, p = .040), diplopia (OR 2.74, p = .039), increased platelets (OR 2.98, p = .020) and lower CRP (OR 0.63, p = .004). We found there is a 27.3% decrease in the odds of having PVL when CRP value is doubled, keeping all other variables fixed. Permanent vision loss was 3.07 times more likely in the absence of polymyalgia rheumatica and 4.25 times more likely in patients without headaches. Ocular involvement in GCA is common, usually severe with little chance of recovery. Detailed analysis of visual acuity and visual field loss in our PVL cohort adds valuable data to the literature which lacks this information. Older patients with jaw claudication, diplopia, and increased platelets are at higher risk for permanent vision loss, especially when PMR and headache are absent and acute phase reactants lower.

Objective. Rheumatoid Arthritis may onset with ocular manifestations. The purpose of our work was presentation of clinical case of the onset of rheumatoid arthritis with an eye lesion.Materials and methods. A clinical case of rheumatoid arthritis with an atypical onset was analyzed. As well, a search and review of relevant literature was performed.Results. Patient with rheumatoid arthritis got bilateral ulcerous keratitis, refractory to conventional treatment and complicated by bilateral corneal perforation with iris prolapse. Due to the atypical clinical course of ophthalmic lesions being insusceptible of medical treatment, the patient was examined further. Laboratory immunological workup revealed positive rheumatoid factor, anti-CCP and anti-MCV antibodies. The typical symmetric presentation of arthritis developed 8 months after the onset of ophthalmic disorders. Baseline therapy of rheumatoid arthritis has demonstrated efficacy both in controlling the joint manifestations and preventing relapse of keratitis.Conclusion. The development of eye syndrome may precede articular manifestation of rheumatoid arthritis. While managing patients with recurrent bilateral keratitis, rheumatologic pathology should be suspected.

This prospective case-control study investigated gender-related differences in dry eye symptoms following surgery for involutional ectropion and entropion. A total of 109 patients, aged between 65 and 89, were categorized by eyelid condition and gender. Postoperative assessments included the Tear Film Break-Up Time (TBUT) test, Schirmer I test results, corneal and conjunctival staining, eyelid margin characteristics, and scores from the Ocular Surface Disease Index (OSDI) questionnaire. The analysis revealed notable gender-related differences in dry eye manifestations. Initially, men exhibited lower TBUT scores but higher Schirmer test readings compared to women; however, these disparities diminished over time. No significant gender differences were detected in corneal and conjunctival staining, indicating similar levels of ocular surface damage across genders. Males showed significantly higher values in several eyelid margin characteristics (LMI, LMT) at various postoperative time points. According to the OSDI questionnaire, women experienced more severe symptoms of dry eye both pre- and post-operatively, suggesting a greater subjective symptom burden. When comparing surgical outcomes for ectropion and entropion, both conditions showed improvement in eyelid positioning and dry eye symptoms post-surgery. Despite these improvements, women with either condition reported more severe dry eye symptoms compared to men throughout the postoperative period. This study highlights the gender-specific variations in dry eye symptoms following eyelid malformation surgery and emphasizes the importance of adopting gender-sensitive approaches in postoperative care to improve outcomes and ocular health.

Background: Intraocular Pressure (IOP) is the fluid pressure in the eye. Primarily, IOP is influenced by the production and drainage of aqueous humor. The IOP value is in the normal range if the production and drainage of aqueous humor are balanced so that IOP homeostasis must be maintained. Eye dysfunction can occur if the production and drainage of aqueous humour are not balanced. IOP can be influenced by factors such as Body Mass Index (BMI). This study aims to find out whether there is a correlation between BMI and IOP in children without Down syndrome and children with Down syndrome, where children with Down syndrome have one of the eye manifestations in the form of steep and thin corneas which could be one of the factors causing affect the results of IOP measurements. Methods: The research method used is quantitative-observational with a cross-sectional approach. The total research sample used in this study was 101 children aged 0 to 18 years, with details of 79 children without Down syndrome and 22 children with Down syndrome. Data were processed using the Mann-Whitney hypothesis test and T-test, as well as the Spearman correlation test. Results: The results of the study showed that there was a difference in IOP between children without Down syndrome and children with Down syndrome (p &lt; 0.1), there was a difference in BMI results on IOP in children without Down syndrome and children with Down syndrome (p &lt; 0.1), and there was no correlation between BMI and IOP in children without Down syndrome (p &gt; 0.1). It was found that there was a correlation between BMI and IOP in children with Down syndrome (p &lt; 0.1). It was stated that BMI contributed 91.7% to the increase in IOP. Conclusion: there was a significant difference in IOP and BMI results on IOP between children with and without Down syndrome. There was no correlation between BMI and IOP in children without Down syndrome, but there was a correlation between BMI and IOP in children with Down syndrome.

Background: Sarcoidosis is a systemic granulomatous inflammatory disease that is associated with inflammatory eye manifestations such as uveitis, cystoid macular edema, and retinal vasculitis. Although Corticosteroids (CS) have traditionally been the mainstay of treatment, there is a clinical need and growing interest in exploring alternative therapeutic options for patients who are refractory to or intolerant of CS or require long-term steroid-sparing agents. Purpose: This case series aims to describe the effectiveness of adalimumab, an anti-tumor necrosis factor (TNF)-α monoclonal antibody, in the management of complex sarcoidosis-related inflammatory eye disease via reduction in CS dosage and ocular exam findings before and after initiation of adalimumab therapy. Method: A retrospective chart review of patients between 2010 and 2023 seen at our academic center’s rheumatology and eye clinics was conducted, with 5 patients meeting the inclusion criteria. Results: Most patients were able to lower, discontinue, or remain off oral CS, while all 5 patients demonstrated a reduction in uveitis activity, Cystoid Macular Edema (CME), and/or retinal vasculitis. Conclusion: These findings suggest a potential role for adalimumab as an effective and safe therapeutic option in the management of complex sarcoidosis-related inflammatory eye disease.

Background: An increase in the worldwide prevalence of diabetes, especially among younger populations, has led to a higher prevalence of pre-existing diabetes among pregnant women. The precise mechanisms underlying the development or progression of diabetic retinopathy (DR) during pregnancy are not entirely understood. This narrative review incorporates all available data to offer fresh insights into the pathogenesis and mechanisms of the pregnancy-induced development and/or progression of DR. Moreover, the author aims to offer clinical recommendations for DR both before conception and during pregnancy to appropriately counsel these susceptible patients. Methods: A literature search was performed using various combinations of the following keywords: diabetes, pregnancy, diabetic retinopathy, ocular, eye, retina, microangiopathy, mechanism, pathophysiology, hyperglycemia, hypoxia, neovascularization, growth factors, immune system, blood flow, and recommendations. The search was conducted using PubMed/MEDLINE, ISI Web of Science, Scopus, and Google Scholar, and only English articles published from January 1, 2020, to December 31, 2023, involving human participants, were considered. The International Diabetes Federation Diabetes Atlas website was searched for clinical recommendations. Results: Pregnancy-induced hyperglycemia, blood flow changes, growth factors, and the immune system play important roles in the development and progression of DR. Hyperglycemia leads to significant stress on the capillary endothelium through increased glucose flux via the polyol and hexosamine pathways, activation of protein kinase C, and increased formation of advanced glycation end-products. These pathways act in several ways that may lead to increased oxidative stress, inflammation, and vascular blockage. Thus, eye examinations are crucial before, during, and up to 12 months after pregnancy. Individuals with severe non-proliferative and proliferative DR should gradually decrease their blood glucose levels to near-normal levels over a period of 6 months before conception. Statins and medications inhibiting the renin–angiotensin system should be discontinued before pregnancy or at the initial antenatal visit if they are still being used. Retinal examinations should be performed shortly after conception and during the first trimester using tropicamide eye drops and digital imaging. Subsequent examinations should be scheduled based on DR severity at the initial examination. Conclusions: While the precise mechanism underlying the progression of DR during pregnancy remains uncertain, the available literature suggests that pregnancy-induced hyperglycemia, blood flow changes, growth factors, and the immune system play important roles in its development and progression. Pregnant women with diabetic eye manifestations benefit from the expertise of multidisciplinary teams comprising ophthalmologists, diabetologists, and gynecologists to improve both maternal and perinatal outcomes. Moreover, postpartum follow-up requires special attention.

Abstract BackgroundVEXAS ‘Vacuoles, E1 Enzyme, X‐linked, Autoinflammatory, Somatic syndrome’ is a rare autoinflammatory syndrome, first described in October 2020 by Beck et al. It is caused by somatic mutations in the UBA1 gene, coding for the E1 enzyme, responsible for ubiquitination. It manifests in adulthood, mainly in men, with constitutional symptoms, haematological abnormalities and often skin lesions with neutrophilic dermatoses most frequently reported. Since skin lesions are a frequent and early manifestation, recognising these may prove very useful for diagnosis.ObjectivesTo focus on the dermatological manifestations of VEXAS and their histopathological correlate.MethodsWe retrospectively collected data and revised skin biopsies of VEXAS patients diagnosed in our tertiary care centre, and compared those with the literature.ResultsWe identified nine men between 62 and 84 years old. The most frequently encountered UBA1 mutation was p.Met41Thr. Skin manifestations occurred in all patients; mostly as erythematous to purpuric papules/plaques, often with annular pattern. Histopathological, early VEXAS lesions showed a gradient in infiltrate with neutrophils being concentrated in the superficial interstitium and lymphocytes situated deeper around the blood vessels. Later in the disease course, the pattern became more variable and less specific with more nuclear debris, histiocytes, neutrophils and ulceration. Haematological and constitutional manifestations were present in all patients, followed by musculoskeletal (88.8%), eye (77.7%) and cardiovascular manifestations (66.6%). Polychondritis was present in 6/9 (66.6%) patients, as were respiratory symptoms, though only 33.3% had proven lung disease. The mortality rate was 22% 10 months after diagnosis.ConclusionsThis is the first cohort which describes in detail VEXAS skin manifestations with revision of all available skin biopsies, which led to the conclusion that early histopathological abnormalities in VEXAS syndrome may be easy to recognise, while the histopathological image becomes less specific over time and mimics other diseases as VEXAS progresses.

Marfan syndrome (MIM: # 154700; MFS) is an autosomal dominant disease representing the most common form of heritable connective tissue disorder. The condition presents variable multiorgan expression, typically involving a triad of cardiovascular, eye, and skeletal manifestations. Other multisystemic features are often underdiagnosed. Moreover, the disease is characterized by age related penetrance. Diagnosis and management of MFS in the adult population are well-described in literature. Few studies are focused on MFS in the pediatric population, making the clinical approach (cardiac and multiorgan) to these cases challenging both in terms of diagnosis and serial follow-up. In this review, we provide an overview of MFS manifestations in children, with extensive revision of major organ involvement (cardiovascular ocular and skeletal). We attempt to shed light on minor aspects of MFS that can have a significant progressive impact on the health of affected children. MFS is an example of a syndrome where an early personalized approach to address a dynamic, genetically determined condition can make a difference in outcome. Applying an early multidisciplinary clinical approach to MFS cases can prevent acute and chronic complications, offer tailored management, and improve the quality of life of patients.