Clinical and Experimental Ophthalmology最新文献

Background: This study investigated the clinical characteristics and the genotype-phenotype correlation of DOCK6-associated autosomal recessive Adams-Oliver Syndrome in a large cohort of familial exudative vitreoretinopathy patients.

Methods: Comprehensive ocular examinations were conducted on probands and their family members. Whole-exome sequencing (WES) was performed on the probands, with Sanger sequencing validation for family members. In vitro experiments validated copy number variation (CNV) and splice-site mutations.

Results: A total of 642 families with FEVR phenotypes were included, leading to the identification of seven probands with biallelic pathogenic DOCK6 mutations, corresponding to a prevalence of 1.09%. Thirteen mutation sites were identified, including seven frameshift mutations, four splice mutations, one CNV, and one nonsense mutation, indicating the pathogenic mechanism of DOCK6 in FEVR is more likely due to functional loss. Among the 14 eyes of the seven probands, five eyes (35.71%) and four eyes (28.57%) exhibited total retinal detachment and retinal folds, respectively.

Conclusions: Biallelic DOCK6 mutations represent a genetic cause of FEVR. These pathogenic mutations typically result in loss of function, leading to severe ocular and systemic manifestations. These findings highlight the importance of considering DOCK6 mutations in patients presenting with atypical or severe FEVR phenotypes.

Background: This study aimed to evaluate the impact of early ophthalmic referral for premyopic preschoolers on myopic spherical equivalent (SE) shift after school entry; and to identify risk factors for nonadherence to follow-up care.

Methods: A population-based longitudinal study followed 742 premyopic preschoolers (-0.5 D < SE ≤ +0.75 D) from a countywide screening in Yilan, Taiwan (2021-2022), into first or second grade in elementary school (2023). Cycloplegic autorefraction and caregiver questionnaires were collected at baseline and follow-up. Children screened in 2022 comprised the intervention cohort, while those screened in 2021 formed the comparison cohort. Multiple regression analyses assessed factors associated with myopic SE shift and nonadherence to follow-up care.

Results: Amongst 742 premyopic children (mean [SD] age at follow-up, 7.2 [0.4] years; 57.8% boys), the overall SE progression was -0.19 (0.39) D/year and the incidence of myopia was 14.8 per 100 person-years. The intervention cohort had a slower myopic SE shift than the comparison cohort (-0.15 vs. -0.22 D/year; p = 0.009). Referral at baseline was independently associated with slower SE progression (β = 0.070; p = 0.03). Amongst those referred in the intervention cohort, 63.2% adhered to follow-up care. Nonadherence was associated with greater baseline hyperopia (adjusted OR, 3.77; 95% CI, 1.69-8.41) and rural residency (adjusted OR, 2.01; 95% CI, 1.23-3.30).

Conclusions: Early ophthalmic referral reduced myopic progression, but follow-up adherence was suboptimal, especially in children with greater hyperopia or living in rural areas.

Background: Eye injuries are a significant cause of monocular blindness, contributing to individual morbidity and substantial healthcare costs. Despite this burden, eye injury prevention remains underrepresented in Australian public health initiatives. This systematic review (PROSPERO ID: CRD42024551054) aims to provide the first comprehensive nationwide synthesis of eye injury epidemiology in Australia.

Methods: Three databases (MEDLINE, Embase, Web of Science) were searched to identify Australian studies on eye injuries from 1 January 2000 to 1 May 2024. Studies were excluded per the following criteria: not in English; did not exclusively evaluate eye injury (e.g., evaluated all causes of blindness); only evaluated outcomes after injury; sample size < 25; conference abstracts, editorials, letters to the editor/other review articles. Critical appraisals of included texts were performed using the Joanna Briggs Institute Checklist for Analytical Cross-Sectional Studies. Results were synthesised using the International Globe and Adnexal Trauma Epidemiology Study (IGATES) as a framework.

Results: In total, 30 studies were included, ranging from statewide audits to nationwide surveys. Eye injuries were commonest among young males in occupational settings and older adults experiencing falls at home. Paediatric eye injuries frequently occurred during sport or at home. Rural Australians and First Nations women were disproportionately affected by assault-related injuries, including domestic violence.

Conclusions: This review highlights key demographic and contextual risk factors for eye injury in Australia and establishes a robust evidence base to inform targeted, data-driven national prevention strategies. The main limitation of this review is the heterogeneity of included studies, which emphasises the importance of using international, standardised registries such as IGATES.

Background: The prevalence of keratoconus in New Zealand is higher compared to the global prevalence of 1.38 per 1000, with Māori and Pacific Islander being over-represented. The form of keratoconus in New Zealand has been shown to have a more rapid progression of disease. In this study, we aimed to evaluate the cost-effectiveness of introducing screening for keratoconus in the New Zealand context, with corneal cross-linking as treatment for those screening positive.

Methods: A Markov simulation was used to model the impact of screening plus corneal cross-linking compared to usual care across a lifetime horizon and societal perspective with a 3% discount rate. Cost-effectiveness was determined by the incremental cost-effectiveness ratio, with utility measured in quality-adjusted life-years. Univariate and probabilistic sensitivity analyses were carried out to investigate factors influencing cost-effectiveness.

Results: The incremental cost-effectiveness for screening with corneal cross-linking treatment was -NZ$1278 (95% CI -1418, -1139) per QALY gained. Factors that had the most influence on incremental cost-effectiveness were the specificity of the screening test, the prevalence of keratoconus at the time of screening, the discount rate, the probability of patients who are progressors, adherence, and efficacy of cross-linking treatment.

Conclusion: Screening for keratoconus at age 15 with corneal cross-linking treatment for children who screened positive is likely to be cost saving. Our results support the need for a real-world trial and cost-effectiveness analysis in New Zealand to ensure that we identify and treat those at risk early in the disease course before significant vision loss has occurred.

Background: To evaluate the association between prior selective laser trabeculoplasty (SLT) on intraocular pressure (IOP) lowering efficacy of phacoemulsification combined with iStent inject (phaco-iStent).

Methods: Retrospective study of 1550 eyes of 1023 patients with and without prior SLT that underwent phaco-iStent. Surgical success was defined at 12 months using three different endpoints: (A) IOP ≤ 21 mmHg and ≥ 20% IOP decrease, or ≥ 1 medication reduction vs. baseline, (B) ≥ 1 medication reduction with no increase in baseline IOP or (C) IOP ≤ 21 mmHg and ≥ 20% IOP decrease alone with no increase in baseline medication use. The prior SLT and no SLT patients were propensity score matched by age, baseline IOP and IOP-lowering medication use and visual field mean deviation (VF MD).

Results: Three hundred and sixty-eight eyes (184 eyes per group) of 313 patients were matched based on baseline IOP and medications, VF MD, and age at surgery. Prior SLT was associated with an increased risk of failure using endpoints A [hazards ratio (HR) 2.13, 95% confidence intervals (CI) 1.34-3.38], B (HR 1.73, CI 1.1-2.72) and C (HR 1.51, CI 1.05-2.16). In eyes with prior SLT, higher baseline IOP was significantly associated with a lower risk of failure to achieve a minimum 20% reduction in IOP from baseline (HR 0.89, 0.85-0.94, p < 0.001).

Conclusion: In this observational study, prior SLT was associated with an increased risk of failure after phaco-iStent inject surgery. In eyes with prior SLT, there was a significantly decreased risk of failure in eyes with higher baseline IOP.

Background: Diabetic kidney disease (DKD) and diabetic retinopathy (DR) share common microvascular pathophysiology, yet the relationship between retinal neuronal alterations and kidney dysfunction remains unclear. This cross-sectional study examines the association between individual retinal layer thickness and kidney indicators to identify novel optical coherence tomography (OCT) biomarkers for DKD.

Methods: A total of 410 type 2 diabetes (T2D) patients (815 eyes) were recruited from the outpatient clinics of a tertiary eye centre in Singapore. Retinal layer thickness was measured using OCT with automated segmentation software (Orion). The association between the thickness of individual retinal layers and estimated glomerular filtration rate (eGFR) as well as urine albumin-to-creatinine ratio (UACR) categories was analysed using a Generalised Estimating Equation (GEE) approach.

Results: GEE analysis identified a significant association between outer plexiform layer (OPL) thickness and both eGFR and UACR category, with perifoveal OPL thickness showing the strongest inverse association with eGFR (adjusted p = 0.0007) and positive association with the category of UACR (adjusted p = 0.005). After stratifying by retinal thickness, this association remained robust in eyes without macular oedema (foveal total retinal thickness < 320 μm). No significant associations were found for other retinal layers.

Conclusions: OPL thickening serves as a potential indicator for DKD, and OCT imaging offers a noninvasive tool for investigating retinal-renal interactions. Further longitudinal studies are needed to evaluate its utility in monitoring DKD progression.

Background: The bleb-forming surgical spectrum in open-angle glaucoma has recently been expanded by novel surgical approaches. Through a medical device implantation (Xen Gel Stent (XGI) or Preserflo Microshunt (PMI)), these procedures aim at more standardised aqueous humour shunting and an intra- and postoperative risk reduction. Postoperatively, however, XEN, PMI and trabeculectomy share their dependence on the proper function of the filtration bleb. This review summarises available literature on anterior segment optical coherence tomography (AS-OCT)- and AS-OCT angiography (AS-OCTA)-based bleb parameters with an emphasis on their association with bleb function.

Methods: A systematic PubMed search was performed to identify the available evidence.

Results: A total of 52 suitable reports were identified and are presented in a structured manner.

Conclusion: The retrieved literature demonstrates that there exists a broad body of evidence for the use of AS-OCT and AS-OCTA after TE, XGI and PMI with the potential for AS-OCT and AS-OCTA enhanced follow-up plans. Their implementation in clinical routine is, however, currently impaired by highly variable and impractical study endpoints, lacking transferability of available evidence between different surgical procedures and missing evidence from prospective interventional trials.