Queensland Eye Institute

To compare the anatomical and functional outcomes of internal limiting membrane (ILM) flap and conventional ILM peeling in idiopathic full-thickness macular holes (FTMHs). Retrospective cohort study of all eyes treated with vitrectomy and ILM peeling (ILM-P) with or without ILM flap (ILM-F) for primary idiopathic FTMH repair in the Australian and New Zealand Society of Retinal Specialists (ANZSRS) Registry between 2006 and 2023. Propensity score weighting and multivariable regression analysis adjusted for baseline characteristics and covariates, including surgeon grade, lens status, and follow-up duration, were used to evaluate hole closure rate and best corrected visual acuity (BCVA) change at 3 months. Two thousand nine hundred ninety eyes of 2905 patients were included (mean age 69 ± 9 years). One Hundred Ninety-nine eyes underwent ILM-F and 2871 underwent ILM-P. On weighted multivariable regression analysis, ILM-F showed higher odds of hole closure compared to ILM-P (OR = 2.97, 95% CI: 1.08-8.20, p = 0.04). The adjusted closure rate was > 95% across all hole sizes in the ILM-F group, while only falling below 90% for X-large + holes (> 550 μm) in the ILM-P group. No significant difference in BCVA gain was observed between the two groups at 3 months (p = 0.08). The effects of ILM-F compared to ILM-P were consistent across all hole sizes. Although the ILM-F technique was more effective in idiopathic FTMH closure, visual acuity outcomes were comparable to conventional ILM peeling. These findings suggest that ILM-F is not required for the treatment of small and medium FTMHs.

Abstract Motor neuron disease (MND) is a group of neurodegenerative diseases characterised by adult-onset progressive degeneration of motor neurons, of which amyotrophic lateral sclerosis (ALS) is the most common. MND is clinically heterogenous with complex aetiology, being caused by or associated with over 40 different genes, along with multiple environmental risk factors. Although New Zealand has one of the highest incidence and mortality rates of MND globally, the reasons for this are yet to be determined.In light of this lack of systematic genetic MND research in New Zealand, we sought to identify the frequencies of genetic variants in known MND-linked genes in people in New Zealand with MND. A total of 184 participants were enrolled; 149 with a clinical diagnosis of MND and 35 who were clinically unaffected but at risk of familial MND. Of the 149 affected, 128 had sporadic MND, and 21 had familial MND. Participants’ DNA was screened for genetic variation in 46 MND-associated genes using a combination of Sanger sequencing, Illumina single nucleotide polymorphism (SNP) microarray, repeat-primed PCR forC9orf72, and an Invitae gene panel.Clinical phenotypes of participants with MND recapitulated the trends seen in European reference populations with both males, and individuals with spinal onset, having earlier disease onset. Thirty three of the 184 participants (17.9%) carried known pathogenic variants; the majority hadC9orf72hexanucleotide repeat expansion (24/34), and the remainder had previously reported pathogenic genetic variants inSOD1(9/34; p.(Ile114Thr) and p.(Glu101Gly)). All NZSOD1p.(Ile114Thr) cases (n=4) were distantly related (identical-by- descent) to one another and a cluster of >30 MND cases from Australia with the same variant. Variants of interest were identified in 14 participants, of which splicing variantsDCTN1:c.279+1G>C andATP13A2p.(Lys804=) are subject to ongoing study. Of the pathogenic variants, 48.4% were identified in pre-symptomatic unaffected individuals with a family history, highlighting the importance of offering cascade testing and symptom surveillance for families, particularly as gene-specific treatments are becoming available.

Accurate classification of epileptic seizure types through seizure semiology analysis demands significant clinical expertise. While previous studies have employed various action recognition modules, the scarcity of labeled clinical videos has hindered the deployment of larger models. In this study, we explore unlabeled data to pretrain a transformer-based model with contrastive loss, taking advantage of the information that circumvents the need for additional annotation from medical professionals. We maximize the similarity between embeddings from the same patient and video while minimizing those from different patients and videos. Subsequently, a classification head was finetuned to distinguishing temporal lobe epilepsy (TLE) and extratemporal lobe epilepsy (exTLE), achieving a 5-fold accuracy of 0.93 and an F1 score of 0.88 on the video level (N = 57). Our results outperformed other state-of-the-art seizure classification models, demonstrating the efficacy of our approach. This suggests potential applications in clinical practice, where unlabeled data could serve as a valuable aid in improving seizure classification accuracy and patient care.

Adventitial crosslinking is a method in current investigational stage for preventing the rupture of aortic aneurysms. It is based on the photochemical crosslinking of adventitial collagen by exposure to ultraviolet A radiation. Essentially, an adventitial top layer is generated that displays enhanced mechanical properties and imparts additional strength and stiffness to the aneurysmal wall. Looking back upon the history of aortic surgery during 1940s, the aortic film wrapping, then dubbed “cellophane wrapping”, also was a procedure employed for delaying the aneurysmal rupture. In principle, the two procedures are similar in that both result in laminar composites, although the top layers differ fundamentally from each other. This review discussed in some detail the use and clinical outcomes of the aortic wrapping with artificial films, also mentioning the contemporary procedures still grouped under this umbrella term. The focus of the review was a comparative view on two procedures, the aortic film wrapping and adventitial crosslinking. It was concluded that the methods are different in many aspects, including the mechanisms of action. In fact, the promoters of adventitial crosslinking were not aware of the prior existence of aortic film wrapping. However, the achievements of the classical wrapping, by now regarded as merely historical episodes, did not discard prior knowledge, but repurposed it in a process that led to innovative strategies.

Abstract Introduction In vascular reconstruction in arterial trauma, ruptured abdominal aortic aneurysm or ruptured aneurysmal arteriovenous fistula, the challenge no longer lies in the surgical procedure itself, but rather the prevention of intimal hyperplasia, thrombosis and aneurysm formation, in parallel with extending as long as possible the patency of the grafts. The aim of this study is to present the preliminary findings of a novel non-ionizing radiation-based therapeutic method for stabilizing and strengthening the extracellular matrix of the venous wall, improving the biomechanical profile of the autologous graft used in myocardial and lower limb revascularization. Material and methods We developed the protocol and method for UV-A irradiation as a new method of mechanical augmentation of the resistance structure of the venous graft. Samples of the superficial femoral artery, superficial femoral vein, and great saphenous vein (GSV) were extracted from a 58-year-old patient who underwent above-the-knee amputation, and were prepared in 5 × 5 cm 2 patches. Additionally, we analyzed the samples biomechanically biaxially with the BioTester ® 5000, in which we established a 25% equibiaxial stretch. The GSV sample was also treated by UV-A irradiation after being kept in riboflavin 5′-phosphate monosodium salt for 30 min. Results After UV-A treatment of the GSV wall, we observed an important increase of Cauchy stress from 82 kPa to 131 kPa in the longitudinal axis and from 66 kPa to 115 kPa in the circumferential axis. Young’s modulus also changed after treating the GSV wall from 0.564 MPa to 1.218 MPa (longitudinal) and from 0.397 MPa to 0.709 MPa (circumferential). As a result of the therapy, we observed a considerable similarity of the mechanical behavior of the GSV wall to that of the artery wall. Conclusion The photocrosslinking of collagen fibbers at the vein graft adventitia hardens and stiffens the venous wall, making it behave like the arterial wall after treatment. These preliminary ex vivo results on human vascular tissue may serve as the foundation for the development of new treatment approaches utilizing mechanical augmentation of the vein grafts.

Dear Editor, We read with interest the systematic review by Sharma et al.[1] that highlighted the value of rare disease registries as important clinical and research resources to attain better patient outcomes. As the authors report, there are few rare eye disease registries: they identify a total of 26 registries, of which almost half are devoted to hereditary diseases. Notably, most registries are nationally based and have been established in high-income countries or regions spanning western Europe, the United Kingdom, and North America. We agree there remains an unmet need for registries that have international reach for a broad spectrum of rare eye conditions. To this end, we recently established the International Vitreoretinal B-Cell Lymphoma Registry.[2] This multinational initiative, which was not included in the author’s list of rare eye diseases, aims to provide the medical and general communities with real-world information about outcomes of standard diagnostic and therapeutic practices.[2] Vitreoretinal lymphoma affects an estimated one in two million persons annually, typically older adults.[3] Its etiology is unknown, and it may occur as an isolated—or primary—condition, or in association with primary central nervous system lymphoma. Its five-year survival rate is low (approximately 30%)[3,4]; yet, this cancer often “masquerades” as uveitis, delaying a diagnosis and the initiation of appropriate treatment. The rarity of vitreoretinal lymphoma, along with historical and current limitations related to inconsistent reporting in the literature and classification systems, have challenged efforts to improve outcomes.[3,5] Ophthalmologists across the globe contribute to the International Vitreoretinal B-Cell Lymphoma Registry by lodging retrospectively collected, management-focused data without patient identifiers via a secure online platform. We echo the call by Sharma et al.[1] to increase the number and scope of registries for rare eye diseases and applaud the efforts of the Women Ophthalmologists Society to establish the first rare eye disease registry in India. Financial support and sponsorship This work was supported by the Australian Department of Industry, Science, Energy and Resources through an Innovation Connections Grant, in partnership with South Bank Day Hospital (Grant number ICG001790). Conflicts of interest There are no conflicts of interest.

Purpose:To report retinal nerve fiber layer thickness (RNFLT) in eyes with amblyopia compared with contralateral healthy eyes.Methods:In this cross-sectional study, we included patients with anisometropic amblyopia, strabismic amblyopia, and mixed amblyopia. All subjects underwent complete ophthalmic examination, including RNFLT measurement with time-domain OCT (Stratus OCT) and scanning laser polarimeter (GDX VCC). A paired “t” test was used to compare average and quadrant-wise RNFL thickness between the amblyopic and contralateral normal eyes. In addition, an analysis of variance test was used to compare various RNFL thickness parameters between the three groups.Results:A total of 33 eyes of 33 subjects with anisometropic amblyopia, 20 eyes of 20 subjects with strabismic amblyopia, and 38 eyes of 38 subjects with mixed amblyopia were included. In the anisometropic amblyopia group, the average RNFLT in the amblyopic eye was 98.2 mm and 99.8 mm in the fellow normal eye (P = 0.5), the total foveal thickness was 152.82 mm (26.78) in the anisometropic eye and 150.42 mm (23.84) in the fellow eye (P = 0.38). The difference between amblyopic and contralateral normal eye for RNFL and macular parameters was statistically insignificant in all three groups. The RNFL thickness in four quadrants was similar in the amblyopic and non-amblyopic eye between all three groups and statistically non-significant.Conclusion:Our study showed that RNFL thickness was similar in amblyopic and non-amblyopic eyes between all three amblyopia groups.