Clinical and Experimental Ophthalmology最新文献

Background: This study aimed to present the genetic profile of a rare ocular disease nanophthalmos (NO) in a large Chinese cohort, to explore its genetic characteristics and genotype-phenotype correlations.

Methods: A total of 43 unrelated pedigrees diagnosed with NO were recruited. Whole exome sequencing and copy number variation analysis were performed, followed by validation and pathogenicity classification of the detected variants.

Results: The overall genetic diagnostic rate was 60.5%. Twenty-eight unique genetic variants of MFRP, PRSS56, and MYRF have been identified, of which 19 were reported for the first time. The c.1486G>A variant in MFRP and the c.1066dupC variant in PRSS56 were the two most frequent variants. Patients with variants in MFRP or PRSS56 tended to possess shorter axial lengths than those with MYRF variants. Among patients with MFRP null variants, a higher proportion developed uveal effusion syndrome (UES) than did those without null variants, whereas among patients with PRSS56 null variants, a greater number of patients developed angle-closure glaucoma (ACG). A higher proportion of MFRP-related NO patients developed both UES and ACG.

Conclusions: MFRP, PRSS56, and MYRF account for the majority of genetic causes of NO. MFRP-related NO patients tend to exhibit a strong predisposition to complications. Null variants in MFRP and PRSS56 may increase susceptibility to clinical complications. This study provides insights into the genetic landscape and clinical characteristics of NO. These findings will lead to a better understanding of the mechanisms underlying nanophthalmos and other diseases associated with eye development.

Background: We sought to investigate the association between obesity, metabolic syndrome, and metabolic health with incident primary open-angle glaucoma (POAG).

Methods: We included 103 249 UK Biobank participants without previously diagnosed glaucoma or glaucoma-related procedures at enrolment. The primary outcome was POAG identified from diagnostic coding via linked hospital inpatient and primary care data. We used multivariable Cox regression to evaluate the association of body mass index (BMI), and the interaction with metabolic syndrome (MetS) and a novel definition of metabolic health status with incident POAG. BMI was modelled as a time-varying coefficient. Multivariable analysis was adjusted for age, sex, ethnicity, intraocular pressure, spherical equivalent, polygenic risk score and stratified by the presence of primary care data.

Results: There were 647 events of incident POAG over 464 117 580 person-years and a mean follow-up of 12.6 years. At baseline (time = 0), each one unit increase in BMI was associated with a 9% lower hazard of incident glaucoma (HR 0.91, CI 0.86-0.97, p = 0.0066). Further, compared to a normal BMI range of 18.5-24 kg/m², a BMI ≥30 kg/m² was associated with a 65% relative hazard reduction (HR 0.35, CI 0.16-0.80, p = 0.012). There was no significant interaction between BMI and metabolic syndrome or metabolic health (all p > 0.05).

Conclusion: The effect of BMI on the risk of incident POAG varied with time. Higher BMI was associated with a decreased risk of incident POAG in this large prospective cohort. There was no significant association with systemic metabolic health.

Background: Chronic kidney disease (CKD) is a growing health issue that is becoming more prevalent globally, increasing financial cost on healthcare systems. The purpose of this study is to investigate the incidence of eye diseases in patients diagnosed with CKD in Sweden and to evaluate which eye diseases are most likely to develop.

Methods: A longitudinal population-based retrospective case-control study was conducted including all individuals diagnosed with chronic kidney disease during the time period 2001-2019. A total of 19 455 cases and 38 890 controls were included. For each case, two controls were matched with the same sex, age, and county of residence.

Results: CKD patients had a significantly higher risk of contracting any eye disease compared to individuals without kidney disease HR 1.73 (CI 1.67-1.79), with an elevated risk for all blocks of diagnoses except for glaucoma HR 0.95 (CI 0.85-1.06). However, this condition developed earlier in cases than in controls. Subanalyses showed an increased risk for chronic eye disease patients to develop cataract HR 1.70 (CI 1.63-1.78), other retinal disorders HR 1.86 (CI 1.72-2.02), and retinal vascular occlusions HR 2.08 (CI 1.73-2.51). In general, diagnosis of an eye disease occurred earlier in cases than controls.

Conclusions: The results from this study suggest that CKD patients have an increased risk to develop eye disease. Ocular disease seems to develop considerably earlier in CKD, even without staging the severity of the disease, with particularly high risk of developing retinal diseases and cataracts. Screening for eye disease in CKD should be considered.

Background: To evaluate the safety of repeated low-level red-light (RLRL) therapy in children, and the dynamic evolution of choroidal and retinal blood flow.

Methods: This is a single-centre, randomised, single-blind, parallel-group clinical trial. Seventy myopic children were randomly assigned to either the intervention group [receiving RLRL therapy plus single-vision spectacle (SVS)] or the control group (wearing SVS). Participants underwent comprehensive ophthalmic examinations following their first irradiation, 9 months continuous RLRL therapy and stop of treatment. Quantitative analyses of choroidal and retinal microcirculation were analysed via optical coherence tomography angiography.

Results: Over 9 months of treatment, while the RLRL treatment demonstrated significantly less increases in refractive error and axial length compared with the SVS treatment (ps < 0.05), no abnormalities in fundus structure or visual function (mfERG, VEP and microperimetry) were detected (ps > 0.05). A single red-light exposure did not exert a significant influence on choroidal thickness (ps > 0.05). Upon continuous treatment, the RLRL group achieved peak values in these circulations at 9 months (ps < 0.05). Following cessation of exposure, all circulations exhibited a declining trend, reaching similar levels in both groups (ps > 0.05). As the frequency of red-light exposures intensified, there was a consistent surge in these circulations (ps < 0.05).

Conclusions: Nine months of continuous RLRL exposure does not cause toxic side effects on retinal or optic nerve functions, and there is a time-dependent cumulative response in choroidal and retinal circulation.

Background: This study aims to assess the risk of drug-associated glaucoma and track its epidemiological characteristics using real-world data.

Methods: Adverse event reports from the Food and Drug Administration Adverse Event Reporting System (FAERS) from January 2004 to December 2023 were analysed. Disproportionality analysis and the Bayesian Confidence Propagation Neural Network algorithm were used. The study classified drugs associated with glaucoma, assessed risk levels, and compared drug-induced times across different categories.

Results: Eight hundred and five drugs were linked to glaucoma in the FAERS database. Disproportionality analysis identified 46 drugs with significant risk, mainly adrenergic medications (clobetasol propionate, fluocinolone acetonide), antihypertensives (hydrochlorothiazide), insulin (insulin human), anticholinergics (umeclidinium, darifenacin), VEGF inhibitors (brolucizumab, faricimab), and psychotropics (topiramate, ziprasidone). The top three high-risk drugs were clobetasol propionate, umeclidinium, and fluocinolone acetonide. The shortest drug-induced times were observed with indacaterol, salmeterol, and umeclidinium. Anticholinergic medications had the shortest drug-induced time among all categories. Females (62.5%) and the elderly (average age 63.5 ± 16.8 years) were predominantly affected. Reports of drug-associated glaucoma increased over the years.

Conclusion: Preventing drug-associated glaucoma is more effective than treatment. Identifying the risk and drug-induced times of systemic and ophthalmic drugs can reduce occurrence risk. Clinical practitioners should be vigilant and inform patients of these risks.

Background: Paediatric periorbital cellulitis, a common eye condition, typically requires inpatient admission for intravenous antibiotics due to concerns about orbital spread. This study aimed to assess the safety and effectiveness of ambulatory management for children with moderate periorbital cellulitis.

Methods: Over a 24-month period, we prospectively enrolled 84 children aged 1 to 16 years who presented with moderate periorbital cellulitis to the emergency department. Demographic and clinical data were collected. Following a guideline-based decision tree, eligible children received intravenous antibiotics and were discharged with a peripheral cannula for follow-up in ambulatory care and ophthalmology clinics. Descriptive statistics were used for data presentation.

Results: Among the 84 children, 62 (73.8%) were managed through the ambulatory care model. Within the category of moderate POC, those who were admitted to the hospital did not have higher CRP or White Cell counts and received IV antibiotics for the same length of time. The ambulatory care clinic provided a total of 132 daily doses of intravenous antibiotics. Two children treated on this pathway required inpatient admission due to clinical deterioration, one of whom required ophthalmic surgical intervention. There was no mortality or sight-threatening complications in this study.

Conclusions: Implementing a directed ambulatory care pathway for children with moderate periorbital cellulitis proved to be an effective and safe management strategy. This approach reduces the strain on hospital bed occupancy while promoting community-based patient care.