Clinical and Experimental Ophthalmology最新文献

Geographic atrophy (GA) causes significant vision impairment and reduction in vision-related quality of life. Fundus autofluorescence (FAF) is the gold standard of structural assessment of GA but is a surrogate marker for vision loss, which can be assessed by tests of visual function and functional vision. Best corrected visual acuity (BCVA), the most commonly used visual function test in ophthalmology, is a poor metric for assessing GA progression. This is because GA usually only affects the fovea in its late stage, grows slowly, and spared areas of retina may not 'fit' larger reading chart letters, confounding measurements. For this reason, tests of visual function have been developed, including low luminance visual acuity (LLVA), reading speed, contrast sensitivity, microperimetry, flicker perimetry, and dark adaptation. Functional vision measures are approximated through patient-reported outcomes using various questionnaires. This review explores the strength of association between FAF and tests of visual function in patients with GA. A range of targeted, prespecified endpoints of visual function testing should be included in future clinical trials for treatments of GA, focusing on GA lesion phenotypes that are known to progress rapidly in order to maximise the likelihood of identifying positive results. This is critical in jurisdictions where proof of functional benefit is required for regulatory approval of treatments for GA.

Background: Intraocular lens implantation in children with insufficient zonular support can be challenging. Scleral-fixated intraocular lens (SFIOL) implantation can be useful in these cases. We aim to report the visual and refractive outcomes of four-point sutured SFIOL in children.

Methods: A retrospective review of children who underwent primary or secondary four-point SFIOL using Akreos AO60 or Luxgood intraocular lens with polytetrafluoroethylene monofilament (PTFE, Gore-Tex) at Queensland Children's Hospital, Brisbane, Australia.

Results: Fifty-three eyes of 31 children were included for review. The mean age of SFIOL implantation was 7.86 ± 3.71 years. The median follow-up time was 24 months (IQR 35, range 1-77). The majority of children had subluxed crystalline lenses secondary to Marfan syndrome (44 eyes, 83.02%). Best corrected visual acuity (BCVA) was maintained or improved from the preoperative BCVA in 92.6% of eyes. Median postoperative BCVA improved to logMAR 0.2 (IQR 0.16) at 1-year follow-up (p < 0.01). Compared to target refraction, the postoperative refraction was more myopic, but this was not statistically significant. In 33 eyes that had more than 1 year of follow-up, residual refractive error was within 1.00D for 21 eyes, within 2.00D for 7 eyes, within 3.00D for 3 eyes and greater than 3.00D for 2 eyes. Retinal detachment occurred in three eyes (5.66%). Asymptomatic IOL tilt/decentration was noted in one eye (1.88%).

Conclusions: Four-point SFIOL implantation using Gore-Tex suture offered excellent visual and refractive outcomes. Postoperative complications were rare and there were no new cases of amblyopia during the follow-up period.

Background: The University of Sydney 'Microsurgical Skills Course' (MSC) was made mandatory to the Royal Australian and New Zealand College of Ophthalmologists (RANZCO) Vocational Training Program in 2023. This study evaluates the MSC impact on first-year ophthalmology trainees' cataract surgical performance compared to those who did not complete the MSC.

Methods: This retrospective study analysed de-identified RANZCO surgical logbook data and EyeSi survey responses from first-year trainees across Australia and New Zealand. The intervention cohort (2023-2024 first-year trainees) completed the MSC, while the control cohort (2022 first-year trainees) did not. Data included demographics, prior surgical experience, number of cataract surgeries, surgical role, senior surgeon takeovers and intraoperative complications.

Results: Among 112 trainees (intervention = 77; control = 35), 11 613 cataract surgeries were recorded during the first 12 months of training. By 3 months, trainees in the intervention cohort performed more cataract surgeries (36.2 ± 22.6 vs. 26.0 ± 17.4, p = 0.017), assumed more senior roles in surgery (p < 0.001), required fewer senior surgeon takeovers (p < 0.001) and had a lower rate of posterior capsule tear (PCT) (1.3% vs. 2.9%, p < 0.001) compared to the control cohort. By 12 months, cataract surgery numbers and PCT rates (1.4% vs. 1.8%; p = 0.186) were similar; however, the intervention cohort still held a higher rate of leading surgical roles (p < 0.001) and less senior surgeon takeover (p < 0.001).

Conclusions: The MSC accelerates early surgical proficiency while improving patient safety. This resource will serve as a foundation for assessing surgical outcomes beyond cataract surgery and extending past the first 12 months of training.

Retinopathy of prematurity (ROP) remains a major cause of preventable blindness in premature infants worldwide, with increasing incidence due to advancements in neonatal care. Management of ROP has been revolutionised by anti-vascular endothelial growth factor (anti-VEGF) treatments. Pivotal clinical trials have demonstrated the efficacy of anti-VEGF in the management of Type 1 ROP, while investigation of safety and long-term effects is ongoing. However, infants with ROP often have persistent avascular retina (PAR) despite treatment and require lifelong monitoring for myopia, glaucoma, amblyopia, strabismus, significant refractive error, retinal tears and detachment and adult reactivation of ROP. Alternative therapeutics, including beta-blockers, polyunsaturated fatty acids and vitamin A, remain under investigation. Alongside therapeutic advancements, artificial intelligence (AI) and telemedicine programmes have the potential to expand screening accessibility, particularly in underserved regions, and improve inter-observer variability, though challenges in implementation remain. Together, advanced therapeutics and AI-enhanced screening hold promise for improving outcomes and reducing ROP-related blindness globally.

Background: To describe clinical features, risk factors and outcomes of out-of-the-bag (OTB) intraocular lens (IOL) dislocation in dead bag syndrome (DBS).

Methods: Retrospective review of a single-surgeon series of eyes with IOLs that developed OTB IOL dislocation, managed at Singapore National Eye Centre (January 2014-December 2021), with a minimum of 6 months of follow-up. Eyes with OTB IOL dislocation following secondary IOL implantation and intraoperative capsule complications were excluded. Patient demographics, ocular history, clinical findings, ocular trauma/eye rubbing, surgical procedures and postoperative outcomes were obtained.

Results: Fifty eyes (40 unilateral, 5 bilateral) of 45 patients were included. Patients were predominantly male (82.2%), presenting at 61.9 ± 14.1 years old, 11.2 ± 6.0 years after cataract surgery. Eye rubbing was the only form of ocular trauma (n = 34; 68.0%). Compared to non-eye rubbers, eye rubbers were significantly more likely to have elevated intraocular pressure (IOP) (32.4% vs. 6.2%; OR 10.9, 95% confidence interval [CI] 1.12-107; p = 0.040), larger posterior capsule defects (median 60% vs. 50%; p = 0.029), vitreous in the anterior chamber (38.2% vs. 6.2%; OR 10.3, 95% CI 1.05-101; p = 0.045) and lower endothelial cell counts than the non-affected eye (-145 ± 507 vs. 315 ± 639 cells/mm²; p = 0.026). The most common complications after IOL exchange were elevated IOP (n = 11; 22.0%) including glaucoma (n = 8; 16.0%) and recurrent IOL subluxation (n = 7; 14.0%).

Conclusions: Eye rubbing appears to play an important role in the development of OTB IOL dislocations in DBS and is associated with more severe clinical manifestations. Treating the underlying cause and counselling patients to avoid or minimise eye rubbing may reduce this complication.

Background: To investigate BRAF mutation status and its associated clinicopathological features in conjunctival melanocytic lesions.

Methods: We analysed surgical specimens from 79 conjunctival melanocytic lesions, including inflamed juvenile conjunctival nevi, primary acquired melanosis (PAM) and conjunctival common nevi collected from 2013 to 2022. PAM lesions were further categorised into those without atypia and with mild, moderate or severe atypia. Conjunctival common nevi were subcategorized into junctional, subepithelial and compound nevi. BRAF V600E immunohistochemistry was performed on all specimens, with PCR-mass spectrometry used for ambiguous cases. The main outcome measures were the BRAF V600E mutation rate and related clinicopathological features.

Results: Inflamed juvenile conjunctival nevi showed a BRAF V600E mutation rate of 36.8% (7/19), while the mutation was rare in PAM (4.3%, 1/23). The mutation rate in conjunctival common nevi (67.6%, 25/37) was similar to that in cutaneous common nevi, and most BRAF V600E-mutated cases were found in the subepithelial nevus group (93.8%, 15/16). BRAF mutations were significantly associated with intralesional inflammatory stroma and subepithelial growth pattern, but not with age, lesion location, intralesional cyst and solar elastosis.

Conclusions: BRAF mutations are key driver mutations in inflamed juvenile conjunctival nevi and conjunctival common nevi. Histologically, an 'inflamed juvenile conjunctival nevus'-like inflammatory stroma correlated with BRAF mutations. In our study, solar elastosis was infrequently observed in conjunctival nevi, suggesting that the mutational signature of conjunctival melanocytic lesions resembles that of cutaneous non- or low-level cumulative solar damage type. For cases with equivocal BRAF staining, high-sensitivity sequencing is recommended to confirm mutation status.

Background: We aimed to describe 1-year outcomes of eyes switched to faricimab from first-generation vascular endothelial growth factor (VEGF) inhibitors for neovascular age-related macular degeneration (nAMD) in routine care.

Methods: Multicentre, observational study of 383 eyes tracked in the Fight Retinal Blindness! registry switched to faricimab from aflibercept 2 mg, ranibizumab, or bevacizumab between 1st January-1st August 2023 in Australia.

Results: One-year completion rates were high (335/383 [88%]). The proportion of choroidal neovascular (CNV) lesions graded as inactive increased from 39% at switch to 63% at 12 months (p < 0.01). Mean visual acuity (95% Confidence Interval) decreased from 70.0 (68.6, 71.5) to 68.4 (66.7, 70.1) logarithm of the minimum angle of resolution letters (both approx. 6/12). Mean treatment intervals increased from 7.2 to 10.5 weeks (p < 0.01). Eyes with active CNV at switch maintained mean VA -0.5 (-1.7, +0.7) letters; 50% were inactivated at 12 months. Eyes with inactive CNV at switch lost -3.5 (-5.0, -1.9) letters; 15% had reactivation at 12 months. Switchback occurred in 64/383 eyes (17%), predominantly to aflibercept 2 mg, that lost -1.9 letters without interval change at 12 months. Adverse outcomes were in keeping with previous reports, with no cases of occlusive retinal vasculitis.

Conclusions: We found that faricimab inactivated a significant proportion of CNV lesions that had been active using 1st generation VEGF inhibitors, with a significant extension of the treatment interval. A small reduction in VA occurred in switchers and eyes not switched through the same period.

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.