Update on current pharmacologic therapies for diabetic retinopathy.

INTRODUCTION: Diabetic retinopathy is a major cause of visual loss worldwide. The most important clinical findings include diabetic macular edema (DME) and proliferative diabetic retinopathy (PDR). AREAS COVERED: PubMed was used for our literature review. Articles from 1995 to 2023 were included. Pharmacologic treatment of diabetic retinopathy generally involves the use of intravitreal anti-vascular endothelial growth factor (VEGF) therapy for DME and PDR. Corticosteroids remain important second-line therapies for patients with DME. Most emerging therapies focus on newly identified inflammatory mediators and biochemical signaling pathways involved in disease pathogenesis. EXPERT OPINION: Emerging anti-VEGF modalities, integrin antagonists, and anti-inflammatory agents have the potential to improve outcomes with reduced treatment burdens.

Clinical Outcomes of Combined Phacoemulsification With Intraocular Lens Placement and Microincision Vitrectomy in Adult Vitreoretinal Disease.

Purpose: To evaluate the safety and clinical outcomes of combined phacoemulsification with intraocular lens (IOL) placement and microincision vitrectomy surgery (MIVS) in adult patients with concomitant cataract and vitreoretinal disease. Methods: A consecutive series of patients with comorbid vitreoretinal disease and cataract who had combined phacoemulsification with IOL placement and MIVS was retrospectively analyzed. The main outcome measures were visual acuity (VA) and intraoperative and postoperative complications. Results: The analysis comprised 648 eyes of 611 patients. The median follow-up was 26.9 months (range, 12-60 months). The most common vitreoretinal pathology was intraocular tumor (53%). The best-corrected Snellen VA improved from 20/192 at baseline to 20/46 at the 12-month follow-up. The most frequent intraoperative complication was capsule tear (3.9%). The most common postoperative adverse events after 3 months of follow-up (mean, 24 months) were vitreous hemorrhage (3.2%) and retinal detachment (1.8%). No patient developed endophthalmitis. Conclusions: Combined phacoemulsification with IOL placement and MIVS is a safe, effective technique to manage a broad range of vitreoretinal diseases in patients with significant cataract.

Clinical spectrum of blunted foveal contour.

Foveal hypoplasia is the absence of a foveal depression and the presence of the ganglion cell layer in the foveola. A spectrum of clinical characteristics, including normal or variably decreased visual acuity, has been described in patients with blunted foveal contours. Multiple systemic and ophthalmologic conditions including albinism, aniridia, nanophthalmos, prematurity, and fovea plana have been associated with this anomaly. This article illustrates select clinical conditions characterized by a blunted foveal contour. Given the heterogeneity of findings, a thorough medical history and detailed physical and ocular examinations are usually sufficient for the clinician to make the correct diagnosis.

Knowledge and Attitudes about Transgender Healthcare: Exploring the Perspectives of Hispanic Medical Students.

OBJECTIVE: The aim of this study was to explore the knowledge and attitudes about transgender care in Hispanic medical students at the University of Puerto Rico School of Medicine (UPR SOM). METHODS: Medical students at the UPR SOM were invited to participate in a questionnaire to assess their attitudes and knowledge about the healthcare of transgender patients. The data were analyzed as percentages and averages using Stata version 14. RESULTS: A total of 141 medical students completed the survey. The majority of the students (52.5%) reported that they needed to learn more about transgender health issues. Most of the students (60.3%) were not familiar with the hormonal regimens used for gender reassignment and transition and were not knowledgeable about the requirements an individual must fulfil prior to undergoing gender-reassignment surgery. The Likert scale scores for how comfortable students felt about working with transgender patients and becoming known among peers as a doctor that cares for transgender patients were 4.0 (95% CI: 4.0-4.2) and 4.7 (95% CI: 4.6-4.8), respectively. Almost all the medical students (97.9%) thought that transgender patients deserved the same quality of care from medical institutions as heterosexual patients receive. Most of the medical students (87.3%) believed physicians are responsible for the treatment of transgender patients. CONCLUSION: Our study revealed that even though UPR SOM medical students tend to be willing to treat transgender patients, there are limitations to their knowledge and training regarding this specific healthcare topic. Strategies to improve medical student knowledge about and training on these topics must be considered.

Epidemiology of trauma in patients with mental disorders.

Objectives: We aimed to explore the influence of mental disorders on the risk of developing complications and in-hospital mortality after trauma. Methods: We conducted an institutional review board-approved cohort study of 23 500 adult patients admitted to the Puerto Rico Trauma Hospital from 2002 to 2019. Participants were divided into 2 groups according to the presence or absence of psychiatric illnesses. Logistic regressions were employed to investigate the effect of mental illness on study outcomes. Results: Psychiatric illness was associated with higher risk of complications; this risk increased with age. The pattern was accentuated for those with substance use disorders (SUD) and attenuated for those with non-substance-related diagnoses (NSRD). Psychiatric patients with Glasgow Coma Scale (GCS) scores of 15 had a 42% (95% CI 1.17 to 1.73) higher risk of dying, while the opposite was seen for those with scores <15 (adjusted OR=0.79; 95% CI 0.64 to 0.99). SUD was associated with a 51% (95% CI 1.21 to 1.88) higher risk of death in patients with GCS scores of 15, while NSRD was linked to a 49% (95% CI 0.33 to 0.79) lower odds of death among subjects with scores <15. Conclusions: Our results suggest that trauma patients with SUD are at increased risk of developing complications and those with SUD and GCS scores of 15 are at increased risk of death. Mental health screening is an essential component of the management of trauma patients. Stratifying based on mental health disorders may be helpful during the clinical management of trauma patients, as those with SUD may benefit from more aggressive management. Level of evidence: Level 4, prognostic and epidemiological study. Study type: Original retrospective cohort study.

Variables in the ACBD5 Gene Leading to Distinct Phenotypes: A Case Report.

We report the cases of a father and his daughter, the former diagnosed with retinitis pigmentosa (RP) and the latter with early foveal atrophy; while both shared a novel variant of uncertain significance (VUS) in the ACBD5 gene (variant c.431G>A), they exhibited different clinical profiles and disease manifestations. The father was a 48-year-old man who presented with nyctalopia that had persisted since age seven. He had mild disk pallor, vessel attenuation, retinal pigment epithelium (RPE) changes nasal to the fovea, and few mid-peripheral bone spicules. Sequencing analysis showed that he carried seven VUS in five genes: ACBD5 c.431G>A (p.Gly144Asp), CYP4V2 c.296T>C (p.Met99Thr), EYS c.1852G>A (p.Gly618Ser), HMCN1 c.280G>A (p.Val94Met), HMCN1 c.8939A>C (p.Asn2980Thr), RP1L1 c.575C>A (p.Pro192His), and RP1L1 c.1375A>C (p.Thr459Pro). He shared only the ACBD5 gene with his 18-year-old daughter. The daughter had 20/20 visual acuity, but further testing showed foveal atrophy and hyperautofluorescence. Intrafamilial phenotypic heterogeneity was detected in our patients. Studies on the role of hormonal factors leading to phenotypic variability are warranted.

Unilateral morning glory disc anomaly in a patient with prenatal Zika virus exposure.

BACKGROUND: To report a case of morning glory disc anomaly (MGDA) in a pediatric patient with prenatal Zika virus (ZIKV) exposure. CASE PRESENTATION: A 3-year-old male with prenatal exposure to ZIKV, confirmed by real-time polymerase chain reaction testing during the second trimester of pregnancy, was evaluated due to visual loss. Physical examination was remarkable for unilateral MGDA. Neuroimaging showed a base of skull encephalocele through the floor of the sella and callosal dysgenesis. CONCLUSIONS: This is the first report to suggest an association between prenatal ZIKV exposure and MGDA. Prenatal ZIKV exposure may be associated to a wider pathologic spectrum than previously reported.

Clinical characteristics and ultra-widefield fundus image analysis of two siblings with Bardet-Biedl syndrome type 1 p.Met390Arg variant.

PURPOSE: To present the case of two siblings with a genetic diagnosis of Bardet Biedl syndrome (BBS) type 1, yet different clinical profiles and disease manifestations. OBSERVATIONS: Sequencing analysis revealed a p.Met390Arg pathogenic variant in the BBS1 gene of both patients, as well as several additional variants of uncertain significance Patient 1 was 41 years old, had three primary (cone-rod dystrophy, hypogonadism, and truncal obesity) and three secondary (arterial hypertension, strabismus, and astigmatism) BBS features. He also had insulin resistance, as well as low levels of total testosterone and cortisol. Patient 2 was 43 years old, had two primary (cone-rod dystrophy and truncal obesity), and four secondary (arterial hypertension, diabetes mellitus, strabismus, and astigmatism) BBS features. Both patients had severe maculopathy; however, patient 1 had bone-spicules that extended up to the mid-periphery, in a perivenular pattern, and significant vascular attenuation with "ghost vessel" appearance towards the temporal periphery, a feature that was absent on patient 2. CONCLUSIONS AND IMPORTANCE: The intrafamilial phenotypic variability among our patients supports the hypothesis that BBS is a disease with genetic, hormonal, and environmental triggers interacting to produce phenotypic variability. Although our report may not establish a definite relationship between environmental and genetic influences, their role should be explored in future studies.