Correlation of the intronic LOXL1 polymorphism rs11638944 with pseudoexfoliation syndrome and glaucoma in a Greek population.

BACKGROUND: The purpose of this study is the development and validation of a novel and robust genotyping method for a new lysyl oxidase-like 1 (LOXL1) intronic polymorphism (rs11638944, C > G) and the investigation of its potential association with pseudoexfoliation syndrome (PXS) and pseudoexfoliation glaucoma (PXG) in a Greek population. MATERIAL AND METHODS: 242 DNA samples from 49 PXS, 64 PXG, 50 primary open-angle glaucoma (POAG) patients and 79 healthy age-matched controls were analyzed. Novel methodologies were developed and optimized, in order to genotype the intronic LOXL1 polymorphism: a) a real-time qPCR and melting curve analysis in the Light Cycler platform for rapid and cost-effective analysis and, b) a conventional PCR-RFLP method for analysis of a small number of samples. In selected samples, validity was checked with the reference DNA Sequencing method. RESULTS: The real-time qPCR methodology was reliable, demonstrating good efficiency, reproducibility, accuracy in genotyping (100% concordance with the PCR-RFLP method and DNA Sequencing), with good allele discrimination (Tm = 53.26°C for C allele, Tm = 61.83°C for G allele, ΔTm = 8.57°C). The results were characterized by Hardy-Weinberg equilibrium in all groups. An increase from 18% in healthy controls to 61% in PXS patients was detected for the G/G homozygote thus, the C allele is protective for PXS with OR = 0.22 (95%CI: 0.11-0.42, p < .0001). Moreover, an increase from 18% in healthy controls to 70% in PXG patients was detected for the G/G homozygote thus, the C allele is protective for PXG with OR = 0.13 (95%CI: 0.06-0.25, p < .0001). CONCLUSIONS: A statistically significant association was verified for the intronic LOXL1 polymorphism rs11638944 and PXS/PXG in a Greek population.

Phacoemulsification outcomes and complications in vitrectomised versus non-vitrectomised eyes.

Clinical relevance: Pars plana vitrectomy techniques have evolved in the recent years and the number of patients undergoing phacoemulsification for post-vitrectomy cataract has increased. Eye-care practitioners need to be aware of intraoperative complications and post-operative outcomes in previously vitrectomised eyes.Background: The aim of the present study is to compare the outcomes and related complications of phacoemulsification in previously vitrectomised versus non-vitrectomised eyes.Methods: This is a retrospective case-control study. Visual acuity, refractive outcomes, intra- and post-operative complications were analysed in consecutive phacoemulsification patients between January 2015 and August 2017. Patients with no post-operative data were excluded.Results: One hundred and forty-nine previously vitrectomised eyes and 608 non-vitrectomised eyes were included in the analysis. Previous pars plana vitrectomy was associated with worse logMAR visual acuity pre-operatively (0.75 ± 0.54 vs. 0.40 ± 0.33, p < 0.0001) and post-operatively (0.15 ± 0.29 vs. 0.09 ± 0.22, p = 0.014). There were no statistically significant differences between the two groups regarding refractive outcomes (p = 0.393) or posterior capsule rupture rate (p = 0.223). Previous pars plana vitrectomy was associated with a higher risk of post-operative macular oedema (p = 0.046) and posterior capsule opacification (p < 0.0001).Conclusions: Previous pars plana vitrectomy was not associated with a higher risk of intraoperative complications. However, a higher incidence of cystoid macular oedema and posterior capsule opacification were identified in the present study. Further research can provide insight into the mechanisms involved and any appropriate prevention strategies for these conditions.

Visual Acuity Outcomes after Phacoemulsification in Eyes with Good Visual Acuity before Cataract Surgery.

OBJECTIVE: to analyse cataract surgery outcomes and related factors in eyes presenting with good visual acuity. SUBJECT AND METHODS: A retrospective longitudinal study of patients undergoing phacoemulsification between 2014 and 2018 in Moorfields Eye Hospital was conducted. Pre- and post-operative visual acuities were analysed. Inclusion criteria were age ≥40 years and pinhole visual acuity ≥6/9 pre-operatively. Exclusion criteria were no post-operative visual acuity data. The visual acuity change variable was also defined according to post-operative visual acuity being above or below the Snellen 6/9 threshold. RESULTS: 2,720 eyes were included. The unaided logMAR visual acuity improved from 0.54 to 0.20 (p < 0.001), the logMAR visual acuity with glasses improved from 0.35 to 0.05 (p < 0.001), and the logMAR pinhole visual acuity improved from 0.17 to 0.13 (p < 0.001); 8.1% of patients had Snellen visual acuity <6/9 post-operatively. Mean follow-up period was 23.6 ± 9.9 days. In multivariate analysis, factors associated with visual acuity <6/9 post-operatively were age (OR = 0.96, 95% confidence interval [CI] [0.95, 0.98], p < 0.001), vitreous loss (OR = 0.21, 95% CI [0.08, 0.56], p = 0.002), and iris trauma (OR = 0.28, 95% CI [0.10, 0.82] p = 0.02). CONCLUSIONS: Visual acuity improved significantly, although at least 8.1% of them did not reach their pinhole preoperative visual acuity. Worse visual acuity outcomes were associated with increasing age, vitreous loss, and iris trauma. The 6/9 vision threshold may not be able to accurately differentiate those who may benefit from cataract surgery and those who may not.

In-the-bag toric intraocular lens implantation in the case of an anterior capsule tear: a case series / Implantação de lentes intraoculares tóricas no saco capsular em casos de ruptura da cápsula anterior: uma série de casos

ABSTRACT Purpose: To analyze the outcomes of in-the-­bag toric intraocular lens implantation for anterior capsular tears during phacoemulsification. Methods: The cohort of this re­trospective, consecutive, interventional case series included eight patients. One patient was excluded as the tear was used to enlarge the rhexis. The mean preoperative astigmatism was -1.67D (± 0.98) and the mean preoperative unaided logMAR visual acuity was 0.62 (± 0.76). The mean angle between the anterior capsule tear and the closest intraocular lens haptic was 51.25° (range, 30°-90°). Results: The final unaided logMAR visual acuity was 0.16 (± 0.21) and the final cylinder was -1.1 D (± 0.59). The mean follow-up duration was about 2 ± 1.2 months. In this case series, no lens had to be explanted or rotated postoperatively. Placement of a toric intraocular lens in the presence anterior capsule tear was safe in all patients. An angle of at least 30° remained between the tear and the intraocular lens haptic. Conclusion: Placement of toric intraocular lens in the presence of an anterior capsule tear may be safe, at least in cases with a 30° angle between the anterior capsule tear and the intraocular lens haptic.

RESUMO Objetivo: Analisar os resultados do implante de lentes intraoculares tóricas para rupturas capsulares anterio­res durante a facoemulsificação. Métodos: A coorte desta série re­trospectiva, consecutiva e intervencional de casos que inclui 8 pacientes. Um paciente foi excluído quando a lágrima foi usada para aumentar a rexe. O astigmatismo pré-operatório médio foi de -1,67 D (± 0,98) e a média da acuidade visual logMAR sem intervenção pré-operatória foi de 0,62 (± 0,76). A média do ângulo entre a ruptura da cápsula anterior e o háptico mais próximo da lente intraocular foi de 51,25° (variação, 30°-90°). Resultados: A acuidade visual logMAR final sem ajuda foi de 0,16 (± 0,21) e o cilindro final foi de -1,1 D (± 0,59). O tempo médio de acompanhamento foi de aproximadamente 2 ± 1,2 meses. Nesta série de casos, nenhuma lente teve que ser removida ou rotacionada no pós-operatório. A colocação de uma lente intraocular tórica na presença de uma ruptura da cápsula anterior mostrou-se segura em todos os pacientes. Um ângulo de pelo menos 30° permaneceu entre a ruptura e o háptico da lente intraocular. Conclusão: A colocação de lente intraocular tórica na presença de uma ruptura da cápsula anterior pode ser segura, pelo menos em casos com um ângulo de 30° entre a ruptura da cápsula anterior e o háptico da lente intraocular.

In-the-bag toric intraocular lens implantation in the case of an anterior capsule tear: a case series.

PURPOSE: To analyze the outcomes of in-the--bag toric intraocular lens implantation for anterior capsular tears during phacoemulsification. METHODS: The cohort of this re-trospective, consecutive, interventional case series included eight patients. One patient was excluded as the tear was used to enlarge the rhexis. The mean preoperative astigmatism was -1.67D (± 0.98) and the mean preoperative unaided logMAR visual acuity was 0.62 (± 0.76). The mean angle between the anterior capsule tear and the closest intraocular lens haptic was 51.25° (range, 30°-90°). RESULTS: The final unaided logMAR visual acuity was 0.16 (± 0.21) and the final cylinder was -1.1 D (± 0.59). The mean follow-up duration was about 2 ± 1.2 months. In this case series, no lens had to be explanted or rotated postoperatively. Placement of a toric intraocular lens in the presence anterior capsule tear was safe in all patients. An angle of at least 30° remained between the tear and the intraocular lens haptic. CONCLUSION: Placement of toric intraocular lens in the presence of an anterior capsule tear may be safe, at least in cases with a 30° angle between the anterior capsule tear and the intraocular lens haptic.

Oxidative stress in dry age-related macular degeneration and exfoliation syndrome.

Oxidative stress refers to cellular or molecular damage caused by reactive oxygen species, which especially occurs in age-related conditions as a result of an imbalance between the production of reactive oxygen species and the antioxidant defense response. Dry age-related macular degeneration (AMD) and exfoliation syndrome (XFS) are two common and complex age-related conditions that can cause irreversible vision loss. Two subtypes of AMD, which is the leading cause of blindness in the Western world, exist: the most prevalent dry type and the most severe wet type. Early dry AMD is characterized by formation of drusen, which are sub-retinal deposits, in the macular area and may progress to geographic atrophy with more dramatic manifestation. XFS is a systemic disorder of the extracellular matrix characterized by the accumulation of elastic fibrils that leads, in most cases, to glaucoma development with progressive and irreversible vision loss. Due to the aging population, the prevalence of these already-widespread conditions is increasing and is resulting in significant economic and psychological costs for individuals and for society. The exact composition of the abnormal drusen and XFS material as well as the mechanisms responsible for their production and accumulation still remain elusive, and consequently treatment for both diseases is lacking. However, recent epidemiologic, genetic and molecular studies support a major role for oxidative stress in both dry AMD and XFS development. Understanding the early molecular events in their pathogenesis and the exact role of oxidative stress may provide novel opportunities for therapeutic intervention for the prevention of progression to advanced disease.

Development of novel LOXL1 genotyping method and evaluation of LOXL1, APOE and MTHFR polymorphisms in exfoliation syndrome/glaucoma in a Greek population.

PURPOSE: In the Greek population of Epirus, exfoliation syndrome (XFS) and exfoliation glaucoma (XFG) occur at a high prevalence. In this study, we validate a novel lysyl oxidase-like 1 (LOXL1) genotyping method, investigate the previously reported association of LOXL1 with XFS/XFG, and evaluate apolipoprotein E (APOE) and methylenetetrahydrofolate reductase (MTHFR) polymorphisms as genetic risk factors for both conditions in our population. METHODS: Blood samples were collected from 82 patients with XFG, 69 patients with XFS, 52 patients with primary open-angle glaucoma (POAG), and 107 controls. APOE and MTHFR 677C>T genotyping was performed from extracted genomic DNA with established methods. A novel methodology of real-time PCR and melting curve analysis was developed and validated to accurately genotype the LOXL1 G153D and R141L polymorphisms by using two different fluorescent channels of the LightCycler instrument (Roche) examining each SNP separately. RESULTS: No significant differences were observed for the APOE and MTHFR polymorphisms between the patients with XFS, the patients with XFG, and the control subjects. The APOE ε2 allele appears to be associated with elevated risk of POAG in our population. Our novel LOXL1 genotyping method was easy to perform, fast, and accurate. A statistically significant association was found for the LOXL1 gene with XFS/XFG in this Greek population. The association of XFS and XFG with G153D appeared to be less powerful in this population (XFS: odds ratio [OR]=2.162, p=0.039, XFG: OR=2.794, p=0.002) compared to other populations, and for R141L, the association was proven only with XFG (OR=3.592, p<0.001). Neither of the two LOXL1 SNPs was significantly associated with POAG. CONCLUSIONS: We confirmed the association between LOXL1 and XFS/XFG, but the APOE and MTHFR polymorphisms are not significant risk factors for the development of XFS/XFG in our population of patients from Epirus (Greece).

Biomarkers in primary open angle glaucoma.

Glaucoma, a leading cause of blindness worldwide, is currently defined as a disturbance of the structural or functional integrity of the optic nerve that causes characteristic atrophic changes in the optic nerve, which may lead to specific visual field defects over time. This disturbance usually can be arrested or diminished by adequate lowering of intraocular pressure (IOP). Glaucoma can be divided roughly into two main categories, ' open angle ' and ' closed angle ' glaucoma.Open angle, chronic glaucoma tends to progress at a slower rate and patients may not notice loss of vision until the disease has progressed significantly. Primary open angle glaucoma(POAG) is described distinctly as a multifactorial optic neuropathy that is chronic and progressive with a characteristic acquired loss of optic nerve fibers. Such loss develops in the presence of open anterior chamber angles, characteristic visual field abnormalities, and IOP that is too high for the healthy eye. It manifests by cupping and atrophy of the optic disc, in the absence of other known causes of glaucomatous disease. Several biological markers have been implicated with the disease. The purpose of this study was to summarize the current knowledge regarding the non-genetic molecular markers which have been predicted to have an association with POAG but have not yet been validated.