Minimal phenotypes in transgenic mice with the human LOXL1/LOXL1-AS1 locus associated with exfoliation glaucoma.

Exfoliation syndrome is a leading cause of secondary glaucoma worldwide. Among the risk-factors for exfoliation syndrome and exfoliation glaucoma that have been investigated, a genetic association with 15q24.1 is among the most striking. The leading candidates for the causal gene at this locus are LOXL1 and/or LOXL1-AS1, but studies have not yet coalesced in establishing, or ruling out, either candidate. Here, we contribute to studies of the 15q24.1 locus by making a partially humanized mouse model in which 166 kb of human genomic DNA from the 15q24.1 locus was introduced into the mouse genome via BAC transgenesis (B6-Tg(RP11-71M11)Andm). Transgenic expression of human genes in the BAC was only detectable for LOXL1-AS1. One cohort of 34 mice (21 experimental hemizygotes and 13 non-carrier control littermates) was assessed by slit-lamp exams and SD-OCT imaging at early (1-2 months) and mid (4-5 months) time points; fundus exams were performed at 5 months of age. A second smaller cohort (3 hemizygotes) were aged extensively (>12 months) to screen for overt abnormalities. Across all genotypes and ages, 136 slit-lamp exams, 128 SD-OCT exams, and 42 fundus exams detected no overt indices of exfoliation syndrome. Quantitatively, small, but statistically significant, age-related declines in ganglion cell complex thickness and total retinal thickness were detected in the hemizygotes at 4 months of age. Overall, this study demonstrates complexity in gene regulation from the 15q24.1 locus and suggests that LOXL1-AS1 is unlikely to be a monogenic cause of exfoliation syndrome but may contribute to glaucomatous retinal damage.

Predictive biomarkers of intra-ocular pressure decrease after cataract surgery associated with trabecular washout in patients with pseudo exfoliative glaucoma.

To investigate biomarkers of intra-ocular pressure (IOP) decrease after cataract surgery with trabecular washout in pseudo-exfoliative (PEX) glaucoma. A single-center observational prospective study in PEX glaucoma patients undergoing cataract surgery with trabecular washout (Goniowash) was performed from 2018 to 2021. Age, gender, visual acuity, IOP, endothelial cell count, central corneal thickness, medications, were collected over 16-month follow-up. Multivariable binomial regression models were implemented. 54 eyes (35 subjects) were included. Mean preoperative IOP (IOPBL) was 15.9 ± 3.5 mmHg. Postoperative IOP reduction was significant at 1-month and throughout follow-up (p < 0.01, respectively). IOPBL was a predictive biomarker inversely correlated to IOP decrease throughout follow-up (p < 0.001). At 1 and 12 months of follow-up, IOP decrease concerned 31 (57.4%) and 34 (63.0%) eyes with an average IOP decrease of 17.5% (from 17.6 ± 3.1 to 14.3 ± 2.2 mmHg) and 23.0% (from 17.7 ± 2.8 to 13.5 ± 2.6 mmHg), respectively. Performance (AUC) of IOPBL was 0.85 and 0.94 (p < 0.0001, respectively), with IOPBL threshold ≥ 15 mmHg for 82.1% and 96.8% sensitivity, 84.2% and 75.0% specificity, 1.84 and 3.91 IOP decrease odds-ratio, respectively. All PEX glaucoma patients with IOPBL greater than or equal to the average general population IOP were likely to achieve a significant sustainable postoperative IOP decrease.

Exfoliation syndrome and exfoliation glaucoma: Current perspectives and clinical paradigms.

Exfoliation syndrome and exfoliation glaucoma comprise a unique age-related ocular aggregopathy characterized by the accumulation of protein complex aggregates in different ocular structures. Recent literature and studies have expanded our knowledge of the clinical characteristic features, phenotypical variations, and molecular pathophysiology associated with disease onset or development of glaucoma. Despite years of studies on the various epidemiological, clinical, and molecular facets of the disease, the exact mechanism of disease onset, formation of aggregates, and the events that trigger the development of glaucoma marking irreversibility in the disease remains elusive. This review elaborates on the existing and new insights that we have gained over the years and highlights gaps in the knowledge about the disease that need future exploration.

Accuracy of intra ocular lens calculation formulae in patients with pseudoexfoliation syndrome.

BACKGROUND: The purpose of this study was to investigate the visual and refractive outcomes in patients with pseudoexfoliation (PXF) undergoing routine cataract surgery and to compare the accuracy of intraocular lens (IOL) power calculation formulae. METHODS: Retrospective case-series study from Shamir medical center, a public hospital, Israel. Medical records of patients who underwent routine cataract surgery between January 2019 and August 2021 were investigated. Postoperative visual acuity and manifest refraction were examined. The error in predicted refraction and IOL power calculation accuracy within a range of ± 0.50 to ± 1.00 diopters were compared between different IOL calculating formulae. RESULTS: 151 eyes of 151 patients ages 73.9 ± 7.1 years were included in this study- 58 eyes in the PXF group and 93 eyes in the control group. The mean absolute error (MAE) for the BUII formula was 0.63D ± 0.87 for the PXF group and 0.36D ± 0.48 for the control group (p < 0.05). The MAE for the Hill-RBF 3.0 formula was 0.61D ± 0.84 for the PXF group and 0.42D ± 0.55 for the control group (p = 0.05). There were significant differences in MAE and MedAE between PXF group and control group measures (p < 0.05). In the PXF group there were no significant differences between the different formulae. CONCLUSIONS: There were significant differences in accuracy of IOL power calculations in all formulae between PXF group and control group measures. PXF patients show hyperopic shift from predicted refraction. Barret universal II formula had the highest proportion of eyes with absolute error in prediction below or equal to 0.50 D in both PXF and control groups.

Subfoveal choroidal thickness changes in patients with pseudoexfoliation syndrome (PEX) compared to healthy controls: A systematic review and meta-analysis.

PURPOSE: To investigate changes in choroidal thickness in patients diagnosed with pseudoexfoliation syndrome (PEX) compared to healthy controls, using optical coherence tomography (OCT). METHODS: PubMed and Scopus databases were systematically searched for published articles comparing choroidal thickness between patients with PEX and healthy controls. Standardized Mean Difference (SMD) with 95 % confidence interval (CI) was computed to compare continuous variables. Revman 5.4 was used for the analysis. Subgroup analyses were performed according to OCT devices used. RESULTS: 12 studies were included in our analysis. Subfoveal choroidal thickness was decreased in patients with PEX compared to healthy controls. Subgroup analysis confirmed this finding in studies that used Heidelberg or Optovue OCT Devices. CONCLUSION: Our meta-analysis showed that choroidal thickness was decreased in patients with PEX compared to controls. Increased heterogeneity and small case-control studies are the main limitations of the meta-analysis. Further studies are needed to evaluate the clinical significance of reduced subfoveal choroidal thickness in PEX.

The Effect of Phacoemulsification on the Intraocular Pressure of Patients With Open Angle Glaucoma: A Systematic Review and Meta-Analysis.

PRCIS: There is evidence that cataract surgery can reduce intraocular pressure in patients with primary open angle, normal tension, or exfoliative glaucoma. The complete effect of phacoemulsification is masked by topical intraocular pressure-lowering medications. PURPOSE: To assess the impact of phacoemulsification and intraocular lens implantation on intraocular pressure (IOP) level in individuals with primary open angle glaucoma (POAG), exfoliative glaucoma (XFG), exfoliation syndrome (XFS), normal tension glaucoma (NTG), ocular hypertension (OH), or healthy controls 12 months after the surgery. METHODS: In July 2023, a comprehensive literature review was conducted across six databases. The analysis focused on the phacoemulsification arms of randomized controlled trials (RCTs). The primary outcome of interest was the mean IOP change observed 12 months after phacoemulsification. RESULTS: This meta-analysis included 9 arms from 9 RCTs, comprising a total of 502 participants. Overall, the average IOP was reduced by 3.77 mm Hg (95% CI: -5.55 to -1.99, I2 =67.9%) 12 months after surgery. The subgroup analysis, focused on whether a washout period was used before measuring IOP, revealed that studies with a washout period exhibited a more pronounced IOP reduction of 5.25 mm Hg (95% CI: -7.35 to -3.15, I2 =0%), while studies without a washout period exhibited a reduction of 3.13 mm Hg (95% CI: -5.46 to -0.81, I2 =75.8%). The sensitivity analysis for the latter group, excluding an outlier study, showed a reduction of 1.81 mm Hg (95% CI: -2.95 to -0.67, I2 =0%). CONCLUSIONS: The findings of this systematic review and meta-analysis indicate that cataract surgery meaningfully lowers IOP in POAG, XFG/XFS, or OH 12 months after surgery. However, the use of topical medications masks the precise impact of phacoemulsification upon postoperative IOP. Further research using appropriate washout periods is warranted.

A Prospective Comparison of 180 Versus 360-Degree Gonioscopy-Assisted Transluminal Trabeculotomy Outcomes in Pseudoexfoliation Glaucoma.

PRCIS: Analysis of surgical success and intraocular pressure (IOP), best-corrected visual acuity (BCVA), and antiglaucomatous medication (AGM) changes between segmental 180-degree and 360-degree gonioscopy-assisted transluminal trabeculectomy (GATT) in patients with pseudoexfoliation glaucoma (PEXG) showed no significant difference. OBJECTIVE: To compare surgical outcomes of segmental 180-degree and 360-degree GATT in patients with PEXG. MATERIALS AND METHODS: Prospective, comparative study of 65 PEXG eyes, who underwent segmental 180-degree GATT (GATT 180-degree group, 31 eyes) and 360-degree GATT (GATT 360-degree group, 34 eyes) in a tertiary academic center over a 12-month of follow-up. Primary outcome was qualified and complete surgical success rates for criterion A (IOP <18 mm Hg and >30% reduction) and criterion B (IOP <15 mm Hg and >30% reduction). Secondary outcome measures included IOP reduction, BCVA change, AGM use, and postoperative complications. RESULTS: The probabilities of qualified and complete success rates both for criteria A and B did not significantly differ between the groups ( P > 0.05). IOP and BCVA levels were similar at each time point ( P > 0.05). IOP reduction was 59.3 ± 9.5% in the GATT 180-degree group and 55.8 ± 18.1% in the GATT 360-degree group ( P = 0.33). No significant difference in the mean number of AGM was present at the 12-month visit (1.2 ± 1.1 in GATT 180-degree group vs 1.5 ± 1.2 in GATT 360-degree group, P = 0.25). Significantly higher incidences of postoperative hyphema and IOP spikes were observed in the GATT 360-degree group ( P = 0.01 and P = 0.008, respectively). CONCLUSION: Both segmental 180-degree and 360-degree GATT similarly reduced IOP and AGM with comparable surgical success rates in patients with PEXG at the end of 12 months. Postoperative hyphema and IOP spike rates were significantly higher after 360-degree GATT. Segmental 180-degree GATT may be sufficient to adequately modulate IOP with a lower incidence of postoperative complications in PEXG.

Intrascleral intraocular lens fixation with ab interno trabeculotomy in patients with exfoliation glaucoma with lens subluxation.

PURPOSE: To evaluate the surgical outcomes of intrascleral intraocular lens (IOL) fixation using ab interno trabeculotomy (LOT) in patients with exfoliation glaucoma with lens subluxation. STUDY DESIGN: Retrospective case series. METHODS: Twenty eyes of 18 patients with exfoliation glaucoma and lens or IOL subluxations were included. Three success criteria were based on postoperative intraocular pressure (IOP) (A, ≤15 mmHg; B, ≤18 mmHg; C, ≤21 mmHg). The IOP, number of glaucoma medications, and visual acuity were compared before and after surgery. Success probability was analyzed using Kaplan-Meier survival curves. Cox proportional hazards' regression models were used to examine prognostic factors for surgical failure. RESULTS: The mean follow-up period was 23.4 ± 7.8 months. The mean IOP significantly decreased from 23.2 ± 6.8 mmHg preoperatively to 14.0 ± 4.4 mmHg at 1 year postoperative (P<0.001). Postoperative hyphema and vitreous hemorrhage were observed in seven and 15 eyes, respectively, and washout in the anterior chamber or vitreous cavity was performed in four eyes. Postoperative IOP spikes and hypotony were observed in four eyes each. Glaucoma reoperation was performed in two eyes. The success rates at 12 months were 65%, 85%, and 90% using criteria A, B, and C, respectively. The IOP at 1 month after surgery was a significant prognostic factor for surgical failure according to criterion A (hazard ratio: 1.08; P=0.034). CONCLUSION: Intrascleral IOL fixation combined with microhook LOT is a promising option in cases of exfoliation glaucoma with subluxated lens/IOL; however, the high rate of postoperative hyphema and vitreous hemorrhage should be noted.

Evaluation of corneal densitometry values with Pentacam in cases of ocular hypertension and pseudoexfoliative glaucoma.

BACKGROUND: Examination of corneal densitometry measurements using the Pentacam Scheimpflug imaging system in cases of pseudoexfoliative glaucoma (PEXG) and ocular hypertension (OHT). METHODS: The study included 50 eyes of 29 PEXG patients, 25 eyes of 16 OHT patients, and 76 eyes of 38 healthy control subjects followed in the glaucoma clinic. Corneal densitometry values of all cases were measured using the Scheimpflug imaging system (Pentacam, Oculus, Germany). Corneal densitometry was assessed based on 4 concentric radial zones (0-2 mm, 2-6 mm, 6-10 mm, and 10-12 mm) and depths (anterior, central, posterior, and total) within the Scheimpflug imaging system. The results were statistically analyzed. RESULTS: Corneal densitometry values examined between the OHT and control groups were higher in OHT and statistically significant (p < 0.05). Corneal densitometry values examined between the PEXG and control groups were higher in PEXG and statistically significant (p < 0.05). In comparison between the PEXG and OHT groups, corneal densitometry values in the central 0-2 mm, 2-6 mm, and 6-10 mm; posterior 0-2 mm and 2-6 mm radial zones were higher in PEXG and statistically significant (p < 0.05). CONCLUSIONS: It was observed that elevated intraocular pressure levels in OHT cases could lead to changes in the cornea, consequently increasing corneal densitometry values. The higher corneal densitometry values in PEXG cases compared to OHT were attributed to the accumulation of pseudoexfoliative material in the cornea. Based on our study, corneal densitometry could serve as a potential biomarker for early glaucoma detection in OHT cases and could be employed to assess corneal transparency during the follow-up of PEXG cases.

Former smoking as a risk factor for visual field progression in exfoliation glaucoma patients in Sweden.

PURPOSE: The present study aimed to identify whether former smoking was a risk factor for visual field progression in exfoliation glaucoma patients. METHODS: Prospective nonrandomised cohort study. The study included patients diagnosed with exfoliation glaucoma. All included patients were followed for three years (± three months) with reliable visual fields. At least five reliable visual fields needed to be included in the study. Exfoliation glaucoma was defined using the European Glaucoma Society Guidelines. The visual fields were tested using the 24-2 test strategy of the Humphrey Field Analyzer. Smoking was assessed through questionnaires. Outcomes: Visual field progression. Three different approaches were used: difference in mean deviation (MD), rate of progression (ROP), and guided progression analysis (GPA). RESULTS: In total, n = 113 patients were included; among them, n = 57 were smokers. Smoking was a significant predictor for visual field progression in the three models (MD/ROP/GPA) studied (p = 0.01/p = 0.001/p ≤ 0.001), even adjusting for intraocular pressure (IOP). Other predictors were included in the MD model: IOP at diagnosis (p = 0.04) and selective laser trabeculoplasty (SLT) treatment (p = 0.01). Other predictors were in the ROP model: Visual field index (p = 0.005), number of medications (p = 0.001) and SLT treatment (p = 0.001). The number of medications was another predictor in the GPA model (p = 0.002). CONCLUSIONS: Former smoking induced visual field deterioration in all models studied. Smoking status should be considered when establishing the glaucoma diagnosis. Increased glaucoma care should be provided to former smokers to slow the progression of the disease.

Is pseudoexfoliation glaucoma a neurodegenerative disorder?

Pseudoexfoliation (PEX) is a systemic age-related progressive disorder with ocular manifestations. The earlier stage of the disease, pseudoexfoliation syndrome (PEXS) involves deposition of white fibrillar aggregates on anterior and posterior eye tissues. It is also the cause of most common form of secondary glaucoma known as pseudoexfoliation glaucoma (PEXG). Studies in the past decade highlight the role of many genetic and environmental factors as the underlying cause of PEX pathogenesis. Latest research findings by various researchers and us present the view of PEX as a type of neurodegenerative disorder. Epidemiological studies have shown association of PEX with different forms of neurodegenerative diseases like Alzheimer's, agerelated macular degeneration and open angle glaucoma. Also, sharing of common genetic risk factors, abnormal protein aggregation and most importantly, progressive degeneration of neurons with age are some of the identifiable features seen in both PEX and other neurodegenerative diseases. In this review, we have compared the pathological symptoms and factors involved in the disease manifestation of PEXG with various forms of neurodegenerative disorders and categorized PEXG as a progressive neurodegenerative disorder.

Intraocular lens power calculations in eyes with pseudoexfoliation syndrome.

To compare refractive outcomes after cataract surgery in pseudoexfoliation syndrome (PEX) and control eyes and to investigate the accuracy of 3 intraocular lens (IOL) calculation formulas in these eyes. In this prospective comparative study 42 eyes (PEX group) and 38 eyes (control group) of 80 patients were included. The follow-up was 3 months. The refractive prediction error (RPE), mean absolute error (MAE), median absolute error (MedAE) and the percentages of eyes within ± 0.25 D, ± 0.5 D, ± 1.0 D and ± 2.0 D of prediction error were calculated. Three IOL calculation formulas (SRK/T, Barrett Universal II and Hill-RBF) were evaluated. PEX produced statistically significantly higher mean absolute errors and lower percentages of eyes within ± 0.5 D than control eyes in all investigated IOL calculation formulas. There were no statistically significant differences in the median absolute errors between the 3 formulas in either PEX or control eyes. Refractive outcomes after cataract surgery are statistically significantly worse in PEX than in control eyes. All three IOL calculation formulas produced similar results in both PEX and control eyes.Trial registration: ClinicalTrials.gov registration number NCT04783909.

One-year outcomes of microshunt implantation in pseudoexfoliation glaucoma.

PURPOSE: To compare the safety and efficacy of microshunt implantation augmented with Mitomycin C in patients with pseudoexfoliation glaucoma (PEXG) and primary open-angle glaucoma (POAG). METHODS: In this retrospective, single centre, interventional study, 46 eyes of 41 patients with PEXG (20 eyes) and POAG (26 eyes) underwent microshunt implantation. Definition of failure was an intraocular pressure (IOP) lower than 5 or higher than 17mmHg on two consecutive visits, an IOP reduction lower than 20% on two consecutive visits, the need of surgical revisions or reoperations or loss of light perception. Outcome was rated as complete success if achieved without medication, otherwise as qualified success. Furthermore, postoperative complications and interventions were compared between the two groups. RESULTS: Patient demographics were similar, except for older age in the PEXG group (70.9±8.6 versus 77.6±8; p = 0.02). Mean IOP dropped from 21.5±5.8mmHg (PEXG) and 18.2±4.5mmHg (POAG) at baseline to 12.8±3.0mmHg (p<0.0001) and 12.9±4.2mmHg (p<0.0001), respectively, at one year. Mean number of medications were reduced from 2.8±1.3 to 0.3±0.8 for PEXG patients (p<0.0001) and from 2.7±1.3 to 0.3±0.8 for POAG patients (p<0.0001). At one year of follow-up 75.0% of PEXG patients achieved complete success and 80.0% qualified success. In the POAG group rates were 73.1% and 76.9%, respectively. Postoperative complications were comparable between both groups, except for higher rates of hypotony (p = 0.04) and choroidal detachment (p = 0.03) in the PEXG group. CONCLUSION: Microshunt implantation demonstrated similar efficacy results in PEXG and POAG eyes at a follow-up of 12 months. Higher rates of transient hypotony and choroidal detachment were observed in PEXG eyes.

The haplotype of the CDKN2B-AS1 gene is associated with primary open-angle glaucoma and pseudoexfoliation glaucoma in the Caucasian population of Central Russia.

PURPOSE: To replicate the finding of the association of five CDKN2B-AS1 gene polymorphisms (rs7865618, rs1063192, rs944800, rs2157719, and rs4977756) with primary open-angle glaucoma (POAG) and to analyze them for possible association with pseudoexfoliation glaucoma (PXFG) in a Caucasian population of Central Russia. METHODS: A total of 932 participants of Russian ethnicity (self-reported), including 328 patients with PXFG, 208 patients with POAG (high-tension glaucoma), and 396 controls, were enrolled in the study. The SNPs were analyzed for possible associations using logistic regression. RESULTS: Several haplotypes based on the studied SNPs were associated with POAG (three haplotypes) and PXFG (six haplotypes). Haplotype AAAGG of loci rs1063192-rs7865618-rs2157719-rs944800-rs4977756 conferred the highest risk for both POAG (OR = 3.99, рperm = 0.001) and PXFG (OR = 2.84, рperm = 0.001). CONCLUSIONS: The CDKN2B-AS1 gene was associated with an increased risk of both POAG and PXFG in Caucasians of Central Russia. The gene may be related to the development of various types of glaucoma.

Evaluation of the Vestibulocochlear System in Patients with Pseudoexfoliation Syndrome

Objectives: Patients with pseudoexfoliation syndrome (PES) can also have sensorineural hearing loss as well as balance problems. Our aim was to evaluate vestibulocochlear system involvement in PES patients. Materials and Methods: The study included 16 subjects with PES (study group) with a mean age of 66.12±5.64 years and 17 healthy subjects (control group) with a mean age of 61.70±8.46 years. Both groups underwent ophthalmological, neuro-otological, audiological, and vestibular evaluation. Pure-tone audiometry and tympanometry were performed as audiological tests and bithermal caloric test and vestibular-evoked myogenic potential (VEMP) testing were used as vestibular tests. The Romberg, tandem Romberg, and Unterberger tests were also performed. Results: In the PES group, bithermal caloric tests revealed right canal paresis in 6 patients, left canal paresis in 3 patients, and bilateral stimulation loss in 2 patients, despite no clinical evidence of balance loss. Paresis was not detected in any of the control subjects. Unilateral VEMP responses could not be obtained in 3 patients in the PES group. The ocular PES patients whose VEMP waves were obtained differed significantly from the control group (p<0.05). In office tests for vestibular evaluation, pathologic findings were found in 7 of 16 patients in the study group and only 4 subjects in the control group. Audiological evaluation with pure-tone thresholds revealed sensorineural decline at 4000 and 8000 Hertz in the PES patients. A statistically significant difference was found between the study group and the control group (p<0.05). Conclusion: Patients with PES showed elevation in pure-tone thresholds and a decrease in superior and inferior vestibular nerve function, demonstrating that the vestibular system as well as the auditory system are affected in PES.

Pseudoexfoliation syndrome in a 27-year-old patient: a case report / Síndrome de pseudoexfoliação em paciente de 27 anos: relato de caso

ABSTRACT Pseudoexfoliation syndrome is more frequent in people aged >50 yeears, and its prevalence increases with age. Few reports have described cases in younger patients, all with a history of ocular surgery, especially iris resection. Herein, we describe the case of a 27-year old man with bilateral advanced glaucoma and pseudoexfoliation material in OS. He had undergone cataract surgeries OU and a penetrating keratoplasty OD during childhood. Currently, he presented with an intraocular pressure of 40 mmHg OU. The OS showed a white flaky material in the pupillary rim and anterior capsule and a Sampaolesi line as a gonioscopic finding. Trabeculectomy was performed OU, and intraocular pressure control was achieved. Unlike other previously reported cases, this patient did not present any apparent iris manipulation in the affected eye. However, he did undergo an iridectomy in the contralateral eye. This is also the first case to be accompanied by bilateral glaucoma at the time of detection of the pseudoexfoliation material.(AU)

RESUMO A síndrome de pseudoesfoliação é mais frequente em pessoas com mais de 50 anos e sua prevalência aumenta com a idade. Poucos relatos descrevem casos em pacientes mais jovens, todos com história de cirurgia ocular, especialmente ressecção da íris. Descrevemos o caso de um homem de 27 anos com glaucoma bilateral avançado e material de pseudoesfoliação no OE. O paciente foi submetido a cirurgias de catarata em AO e a uma ceratoplastia penetrante no OD durante a infância. Atualmente, ele apresentou PIOs de 40 mmHg em AO. O OE apresentou material escamoso branco na borda pupilar e cápsula anterior, e linha Sampaolesi como achado gonioscópico. A trabeculectomia foi realizada em AO e obteve-se o controle da pressão intraocular. Diferentemente de outros casos relatados, o paciente não apresentou qualquer manipulação aparente da íris no olho afetado. No entanto, ele foi submetido a uma iridectomia no olho contralateral. Além disso, este é o primeiro caso a ser acompanhado de glaucoma bilateral no momento da detecção do material de pseudoesfoliação.(AU)

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.

Intracapsular hemorrhage in the setting of pseudoexfoliation syndrome.

We report the case of an 84-year-old man who presented with decreased vision in his left eye. Ocular history included bilateral pseudoexfoliative glaucoma and vitelliform macular dystrophy. He had undergone intraocular lens placement in both eyes 6 years before presenting at our institution. Over follow-up of 4 years, he experienced recurrent spontaneous hyphema and continued residual intracapsular hemorrhage. He was eventually diagnosed with uveitis-glaucoma-hyphema syndrome in the setting of pseudoexfoliation.

Refractive precision in uncomplicated eyes with pseudoexfoliation: three-piece versus one-piece intraocular lens implantation.

PURPOSE: To evaluate the refractive precision of three-piece versus one-piece intraocular lenses (IOLs) in eyes with pseudoexfoliation (PXF) and changes in anterior chamber depth (ACD) following cataract surgery. METHODS: This prospective, nonrandomized, interventional, comparative case series included PXF eyes, which were implanted with one-piece acrylic IOL or three-piece acrylic IOLs (Group A; n = 31, Group B; n = 30). Non-PXF control eyes were implanted with one-piece acrylic IOL (Group C; n = 30). Postoperative refractive error (RE) and absolute RE, as well as pre- to postoperative ACD changes, were statistically analysed. A p value < 0.05 was considered statistically significant. RESULTS: Changes in ACD (mean ± standard deviation) in Groups A, B and C were 0.9 ± 0.4, 1.0 ± 0.3 and 0.7 ± 0.4 mm, respectively. Significant differences were found between Groups A and C (p = 0.043) and between Groups B and C (p = 0.008). In Groups A, B and C, the median and interquartile (Q1 to Q3) values were 0.3 (-0.8 to 1.0), -0.5 (-0.8 to -0.3) and 0.1 (-0.4 to 0.3) for RE and 1.0 (0.4 to 1.3), 0.5 (0.3 to 0.8) and 0.3 (0.3 to 0.5) for absolute RE, respectively. The RE differences between Group A and B (p = 0.009) and Group B and C (p < 0.001) were statistically significant. For absolute RE, the differences were significant for all comparisons (p < 0.05). CONCLUSION: Refractive precision in PXF eyes may be better with three-piece than with one-piece IOL implantation, but worse than with one-piece IOL implantation in non-PXF eyes. Significant changes in ACD in PXF eyes may be related to RE.