Phacoemulsification versus Phacoemulsification/Trabeculectomy for the Treatment of Primary Open-Angle Glaucoma Coexistent with Cataract: A Comparative Study.

Background: The purpose of this study was to evaluate the clinical outcomes in patients with primary open-angle glaucoma (POAG) and coexistent cataract treated with phacoemulsification cataract surgery, either alone or in combination with trabeculectomy. Methods: Participants in this retrospective study were 52 patients diagnosed with previously controlled POAG and coexistent cataract, who underwent either uneventful phacoemulsification cataract surgery (Group I, n = 27) or combined uneventful phacoemulsification cataract surgery and trabeculectomy (Group II, n = 25), with at least a 24-month postoperative follow-up. We recorded the changes in intraocular pressure (IOP) and in the need of anti-glaucoma medications before and after surgical procedures. Results: There was a statistically significant decrease in IOP at postoperative day 7 in both groups (p < 0.001), which remained until the end of the 24-month follow-up. At month 24, the two groups did not differ significantly in terms of IOP (14.3 ± 1.4 vs. 13.1 ± 1.2 for Group I and Group II, respectively; p = 0.447). In addition, there was a statistically significant decrease in the number of anti-glaucoma medications needed at postoperative day 7 in both groups (p < 0.001 for both groups compared to baseline). At month 24, patients in both groups needed about one additional anti-glaucoma medication to control their IOP. Of note, during the first month after surgery, 20% of patients in Group II needed 0.1 mL 5-FU injections to the bleb, although antimetabolites were not used in the primary surgery. Conclusions: Both surgical interventions, namely phacoemulsification cataract surgery alone and phacoemulsification/trabeculectomy, were found to be effective in the management of POAG with coexistent cataract, presenting a significant decrease in IOP and in the need of anti-glaucoma medications postoperatively at a long-term follow-up period of 24 months.

The Role of Vessel Density as Measured by Optical Coherence Tomography Angiography in the Evaluation of Pseudoexfoliative Glaucoma: A Review of the Literature.

INTRODUCTION: To review the existing literature about the optical coherence tomography angiography (OCTA) findings regarding peripapillary and macular vessel density (VD) in patients with pseudoexfoliative glaucoma (PXG). METHODS: A comprehensive search of the PubMed database was conducted to include articles up to November 1, 2021, using an appropriate search algorithm. The retrieved articles were assessed for eligibility and filtered manually to exclude duplicates, while articles and book chapters cited in the reference lists of the eligible articles obtained by this method were reviewed so as not to miss any relevant studies. RESULTS: There is consistency among the studies published so far that a significant decrease in peripapillary VD exists in eyes with PXG compared to controls, and macular VD has also been reported to be significantly lower in PXG eyes than controls. However, the existing literature remains controversial regarding OCTA findings in eyes with PXG compared to those with primary open-angle glaucoma (POAG). Several studies have found that peripapillary VD and macular VD were significantly lower in PXG than POAG, while other studies reported no significant difference. CONCLUSIONS: Eyes with PXG were found to present decreased peripapillary and macular VD compared to control eyes, suggesting that a vascular component, including optic nerve hypoperfusion, may be implicated in the pathogenesis of PXG.

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.

The contribution of multifocal visual evoked potentials in patients with optic neuritis and multiple sclerosis: a review.

PURPOSE: To review the evidence on the usefulness of the multifocal visual evoked potential (mfVEP) test in patients with optic neuritis (ON) and/or multiple sclerosis (MS). METHODS: We critically review key published evidence on the use of mfVEP in ON/MS patients and its association with other functional and structural tests. RESULTS: Multifocal VEP tests are useful in detecting abnormality in patients with ON/MS and monitor the progression of lesions (remyelination, atrophy). In addition, mfVEP has good correlation with conventional visual evoked potential (VEP), standard automated perimetry, optical coherence tomography and magnetic resonance imaging. In patients with ON, mfVEP might be useful in predicting the risk of conversion to MS.

Association of MMP2-1306C/T Polymorphism with Ischemic Retinal Vein Occlusion.

PURPOSE: To investigate the possible association of the matrix metalloproteinase 2 (MMP2)-1306C/T polymorphism with the risk of ischemic retinal vein occlusion (iRVO). METHODS: A total of 69 patients with RVO were enrolled in this study (43 with non-iRVO and 26 with iRVO). All subjects were screened for hypertension, diabetes mellitus, hyperlipidemia, history of stroke, anticoagulant medication, smoking status and glaucoma. The genotyping of MMP2-1306C/T polymorphism was performed using PCR-RFLP-based methods. RESULTS: MMP2-1306C/T T allele carriers (CT+TT) were statistically significant associated with a higher risk of iRVO compared to CC genotype in the overall RVO group (odds ratio = 3.91, p = 0.015, 95% confidence interval:1.30-11.79). Analysis, following stratification by age revealed that T allele carriers had a statistically significant increased risk of iRVO compared to C allele carriers only in RVO patients <75 years old. CONCLUSION: Our results demonstrated that MMP2-1306C/T polymorphism is a likely predisposing factor for iRVO in patients <75 years old. This is the first study attempting association of a gene polymorphism with the prevalence of iRVO.

Intravitreal ranibizumab versus vitrectomy for recurrent vitreous haemorrhage after pars plana vitrectomy for proliferative diabetic retinopathy: a prospective study.

PURPOSE: To compare prospectively intravitreal ranibizumab treatment and pars plana vitrectomy (PPV) in patients with recurrent vitreous haemorrhage (VH) due to proliferative diabetic retinopathy (PDR), who were previously treated with PPV. METHODS: Participants in this prospective study were 37 patients (37 eyes) with PDR, previously treated with PPV. All patients presented recurrent VH and were treated with either ranibizumab (n = 18) or PPV (n = 19). All participants were examined at week 2 post-treatment and every month thereafter for 1 year. Main outcomes were the need of PPV, the rate of recurrence of VH and the change in visual acuity by the end of the 12-month follow-up. RESULTS: At month 12, there was statistically significant improvement in visual acuity in both groups compared to baseline, but the two groups did not differ regarding the change in visual acuity. In ranibizumab group, two patients presented recurrent VH during the follow-up and one patient needed PPV to clear the VH by month 12. In PPV group, two patients had mild recurrent VH, which cleared itself. No statistically significant difference was noticed regarding the rate of recurrent VH and the need of PPV between the two groups. CONCLUSION: Intravitreal ranibizumab seems to be a safe and effective treatment alternative in patients with recurrent VH secondary to PDR, who had been previously treated with PPV.

The Choice of Drainage Device in Complicated Glaucomas: Comparing Ahmed and Baerveldt Implants.

BACKGROUND/AIM: Glaucoma is a chronic and progressive optic neuropathy which leads to deterioration of visual function. It is estimated to be the second leading cause of severe vision loss and blindness worldwide. Failure of anti-glaucoma medication to sufficiently reduce intraocular pressure (IOP) and poor compliance with medication are indications for glaucoma surgery, for example using glaucoma drainage devices. Our aim was to compare the surgical outcomes following the implantation of Ahmed FP7 and Baerveldt 350 drainage devices. PATIENTS AND METHODS: Five hundred and fifty-two patients with primary or secondary glaucoma were enrolled in the study. All patients had a history of failed trabeculectomy or other intraocular surgery, and IOP ≥18 mm Hg. The implantation of Ahmed (266 patients) or Baerveldt (286 patients) devices was randomly performed in the patients, who were subsequently examined for a period of 5 years. Follow-up visits were scheduled 1 day; 1 week; 1, 3 and 6 months; and 1, 1.5, 2, 3, 4 and 5 years postoperatively. RESULTS: Significant reduction of IOP was achieved in both groups. Ahmed valve (28.3±9.3, 13.4±6.9, 14.2±6 and 12.7±4.5 mmHg at baseline, 1, 3, and 5 years postoperatively, respectively) resulted in significantly greater IOP reduction compared to Baerveldt implant (29.6±10.1, 15.4±5.5, 14.5±5.5 and 14.7±4.4 mmHg at baseline, 1, 3, and 5 years postoperatively, respectively). A significantly lower number of medications was required in the Ahmed group in comparison to the Baerveldt one (Ahmed group: 1.5±1.4, 1.4±1.5 and 1.8±1.5; Baerveldt group: 1.9±1.3, 1.9±1.3 and 2.2±1.4, respectively). The incidence of treatment failure and the rate of glaucoma reoperation were significantly higher in the Baerveldt group (40%) compared to the Ahmed group (17%). CONCLUSION: Ahmed drainage implantation seemed to outclass that using the Baerveldt device in our study, in terms of efficacy and success rate.

TCF4 and COL8A2 Gene Polymorphism Screening in a Greek Population of Late-onset Fuchs Endothelial Corneal Dystrophy.

BACKGROUND/AIM: Fuchs' endothelial corneal dystrophy (FECD) is a hereditary, progressive, bilateral, and irreversible disorder of the corneal endothelium. The purpose of this study was to develop a novel, accurate and high-throughput real-time polymerase chain reaction (PCR) method and melting-curve analysis in order to genotype the rs613872 polymorphism in the transcription factor 4 (TCF4) gene and to implement it on a well-ascertained sample of 22 Greek FECD patients and 58 healthy individuals, age- and sex-matched. PATIENTS AND METHODS: DNA was extracted from blood samples, which were screened with the DNA sequencing method in order to detect the g.31753T>G/p.L450W (rs8035192) and g.31767C>A/p.Q455K (rs8035191) mutations in a COL8A2 genomic region. RESULTS: TCF4 risk G allele frequency increased to 48% in FECD patients compared to 17% in healthy-subjects [OR=4.82 (95% CI=1.98-11.73)]. No p.L450W and p.Q455K COL8A2 gene mutations were detected. CONCLUSION: We confirmed that rs613872 in the TCF4 gene is strongly and statistically associated with late-onset FECD in a Greek population.

Psychological Aspects and Depression in Patients with Symptomatic Keratoconus.

PURPOSE: To assess the psychological status of keratoconus sufferers and to determine the relationship between depression and visual impairment in this group of patients. METHODS: Fifty-six patients with keratoconus and forty-seven age- and gender-matched healthy control subjects were retroprospectively analyzed. Every participant underwent a complete ophthalmological examination. Keratoconus diagnosis was confirmed with corneal topography and tomography. Zung Depression Inventory Questionnaire and Patient Health Questionnaire-9 (PHQ-9) were completed by everyone. RESULTS: Visual acuity (logMAR 0.53 ±0.30 versus 0.11 ± 0.16), PHQ-9 score (10.20 ± 4.00 versus 5.40 ± 5.01), and Zung score (46.52 ± 8.70 versus 38.53 ± 8.41) showed a statistically significant difference between keratoconus patients and healthy controls (p < 0.001 for all). Worse visual acuity was strongly correlated with older individuals (rho = 0.339, p=0.011) and higher PHQ-9 (rho = 0.765, p < 0.001) and Zung score (rho = 0.672, p < 0.001). CONCLUSION: Depressive disorders appear to be directly associated with keratoconus, both in frequency and intensity. Worse visual acuity and older age could be identified as predictive factors for their emotional status. Moreover, the disease itself could be recognized as an independent risk factor for depression development, underlying the need for close monitoring and supportive management. To the best of our knowledge, our study is the first in the literature to elaborate the association between keratoconus and depression, by assessing two different questionnaires simultaneously.

Pseudoexfoliation syndrome without glaucoma: White matter abnormalities detected by conventional MRI and diffusion tensor imaging.

PURPOSE: To assess macro- and microstructural brain changes in patients with pseudoexfoliation syndrome (PXS). MATERIALS AND METHODS: Comprehensive ophthalmic examination and brain MRI were conducted on 20 patients with PXS without glaucoma (aged 62.75 ±â€¯0.4 years) and 20 controls (aged 62 ±â€¯0.6 years). White matter (WM) integrity was evaluated on FLAIR and single-shot multisection SE-EPI diffusion tensor imaging (DTI) sequences. The presence and the number of white matter hyperintensities (WMHIs) on FLAIR images was compared between all patients and control subjects. Microstructural WM changes on DTI was evaluated using Tract-based spatial statistics (TBSS). DTI metrics of the optic tracts were assessed by the region-of-interest (ROI) method. RESULTS: A significantly higher number of WMHIs was found in the patients with PXS than in the control subjects (P ≤ 0.002). On DTI the patients showed bilateral increase in the mean diffusivity (MD), axial diffusivity (AD) and radial diffusivity (RD) values in the anterior thalamic radiation, the inferior fronto-occipital fasciculus, the superior longitudinal fasciculus, the inferior longitudinal fasciculus and the forceps minor. TBSS revealed no significant difference in fractional anisotropy (FA) values, but ROIs analysis of the optic tracts revealed decreased FA values in the patients. CONCLUSION: MRI in patients with PXS detects abnormalities in the brain and the optic tracts at a subclinical stage. Early detection of microstructural changes could be useful to guide appropriate treatment to impede the disease process.

Effect of carotenoids dietary supplementation on macular function in diabetic patients.

BACKGROUND: Diabetic retinopathy is a major cause of visual impairment and blindness among working-age people worldwide. The aim of our study was to investigate the effects of a carotenoid supplementation on retinal thickness and macular function of patients with diabetes using optical coherence tomography (OCT) and multifocal electroretinography (mfERG). METHODS: A retrospective study of one hundred and twenty eyes of sixty patients age between 40 and 60 years with non-insulin dependent type 2 diabetes mellitus without diabetic retinopathy who underwent OCT and mfERG and took vitamin supplements for a period of two years. Patients received a carotenoid supplement containing lutein (10 mg), zeaxanthin (2 mg) and meso-zeaxanthin (10 mg) once a day for two years. The thickness of the fovea was evaluated using OCT and the macular function was tested by mfERG. RESULTS: OCT showed an increase in the central foveal thickness and mfERG revealed increased retinal response density within the central 13° surrounding the fovea (rings 1 to 3) at two years after the onset of carotenoids supplement intake. CONCLUSION: The use of carotenoid supplements may be of benefit for improving visual function of type 2 diabetes patients. However, further study is needed to assess the treatment's long-term efficacy.

Investigation of associations of ARMS2, CD14, and TLR4 gene polymorphisms with wet age-related macular degeneration in a Greek population.

BACKGROUND: Age-related macular degeneration (AMD) is a multifactorial degenerative ocular disease that leads to loss of central vision. Functional gene polymorphisms have already been associated with the disease (for example, ARMS2 A69S, rs10490924). AIM: The goal of our study was to verify the correlation of the aforementioned ARMS2 variation with the disease, to examine, for the first time, the role of the CD14 C260T variation (rs2569190), and to investigate the association of two TLR4 polymorphisms (Asp299Gly or rs4986790 and Thr399Ile or rs4986791) in a Greek population with the wet form of AMD. PATIENTS AND METHODS: Genomic DNAs were isolated from blood samples of 103 healthy controls and 120 Greek patients with wet AMD who were age- and sex-matched, and all of whom were clinically evaluated. For the genotyping of all selected polymorphisms, polymerase chain reaction-restriction fragment length polymorphism analysis was performed. RESULTS AND CONCLUSIONS: This study confirmed the association between the ARMS2 variation and AMD, detecting the T risk allele in a significantly higher frequency in the patient group, compared with the control subjects (45% vs 29.13%, P<0.001, odds ratio [OR] 1.99, confidence interval 1.34-2.95). For the CD14 polymorphism, no statistically significant correlation was observed. As for the TLR4 polymorphisms, the percentage of heterozygotes increased from 2.9% to 11.7% in the patient population for Asp299Gly and from 1.9% to 10% for the Thr399Ile polymorphism (ORs 4.40 [P=0.01] and 5.61 [P=0.0088], respectively). Although our ARMS2 and CD14 results provided definite conclusions, the role of innate immunity TLR4 gene awaits further investigation in larger AMD populations with more clinical data collected on past microbial infections.

Tuberculous Posterior Sclero-Uveitis with Features of Vogt-Koyanagi-Harada Uveitis: An Unusual Case.

BACKGROUND Ocular tuberculosis (TB) is a clinical entity that presents with a wide range of clinical manifestations. It is regarded as an extremely challenging condition from the point of view of diagnostic approach and calls for early diagnosis and prompt treatment, as it can potentially lead to blindness. CASE REPORT This is a case report of a 32-year-old male from southern India who has been living and working in Greece over the last 10 years and presented with 2-week history of pain and progressive visual impairment of his left eye. He underwent a thorough clinical ophthalmological examination and imaging of the fundus, and the findings were consistent with uveitis. However, the manifestations of the inflammation were complicated as they included features that could be attributed mainly to Vogt-Koyanagi-Harada (VKH) disease and tuberculous serpiginous-like uveitis. Therefore, a systemic evaluation, together with specific laboratory and paraclinical investigations, were carried out to define the etiology of the inflammation and develop an optimal therapeutic plan. Taking into account specific findings from the chest imaging, a positive purified protein derivative (PPD) skin test, and sputum cultures positive for Mycobacterium tuberculosis (MTB), we set a diagnosis of posterior sclero-uveitis and started our patient on anti-tuberculous treatment. CONCLUSIONS This case reveals an atypical manifestation of tuberculous sclero-uveitis imitating Vogt-Koyanagi-Harada disease together with a few characteristics of serpiginous-like tuberculous uveitis, emphasizing the fact that tuberculosis should always be included in the differential diagnosis of uveitis when there is no obvious underlying disease.

Retrospective clinicopathological study of 129 cancerous and 18 precancerous lesions of the eyelids in North-Western Greece.

This study aimed to present precancerous and cancerous epithelial eyelid lesions, their histopathological features, and possible correlations with clinical parameters. The retrospective study included 147 formalin-fixed, paraffin-embedded samples. We studied precancerous and cancerous epithelial eyelid lesions. Preneoplastic tumors were represented by 12 actinic keratoses and 6 in situ squamous cell carcinomas (Bowen disease) and skin epithelial tumors by 119 basal and 10 squamous cell carcinomas. We recorded the clinicomorphological and histopathological features of the specimens and investigated possible correlations. In our study, the vast majority of pre-malignant and malignant tumors occurred in advanced age (mean age of occurrence: 70.18 years). The data analysis showed that inflammation in patients with basal cell carcinoma (BCC) positively correlated with advanced age (p < 0.01), tumor diameter (p < 0.05), and the appearance of ulceration (p < 0.001). A prevalence of female sex was noted in the BCC group. We also found that inflammation with or without the presence of ulceration was more commonly seen in carcinomatous lesions than in preneoplastic lesions (p < 0.05). Inflammation occurrence is present in high proportions in the tumors studied and correlates with some clinicopathological parameters such as the age of patients, the mean tumor diameter, and the presence of ulceration. The comparison between premalignant and malignant conditions showed that inflammation probability increases as we move toward the more aggressive tumor phenotypes.

Assessment of hydroxychloroquine maculopathy after cessation of treatment: an optical coherence tomography and multifocal electroretinography study.

OBJECTIVE: This study was conducted to evaluate the macular status of patients treated with hydroxychloroquine before and after cessation of treatment. METHODS: Forty-two patients with systemic lupus erythematosus underwent ocular examination based on visual acuity evaluation, optical coherence tomography retinal thickness measurements, and multifocal electroretinography (mfERG) records at first visit. The tests were repeated 6 months after treatment withdrawal and compared to the findings at their first visit. RESULTS: Mean visual acuity (measured in log minimum angle of resolution) of both eyes was statistically increased after hydroxychloroquine discontinuation (difference in means: 0.06 [P<0.0001] and 0.01 [P=0.003] for the right and left eyes, respectively). Retinal response amplitudes of central and peripheral areas were significantly improved for both eyes. The following values were observed for central responses: the difference in means was -19.9 (P<0.0001) and -13.6 (P<0.0001) for the right eye and the left eye, respectively; for peripheral responses, difference in means was -10.3 (P<0.0001) and -9.5 (P<0.0001) for right eye and left eye, respectively, after the 6-month examination. There were no statistically significant differences in the retinal thickness of patients after cessation of treatment. The visual acuity of the patients was correlated to central and peripheral mfERG responses (r=-0.53 [P<0.0001] and r=-0.53 [P<0.0001], for the right eye and the left eye, respectively). CONCLUSION: The visual acuity of patients receiving hydroxychloroquine improves along with the amplitudes of the mfERG responses 6 months after discontinuation of the drug, but no difference in retinal thickness is identified.

Novel association of FCGR2A polymorphism with age-related macular degeneration (AMD) and development of a novel CFH real-time genotyping method.

BACKGROUND: Age-related macular degeneration (AMD) is a degenerative ocular disease, which may lead to loss of central vision. In Caucasian populations, a strong correlation has been established with polymorphism Y402H (rs1061170) in the complement factor H gene (CFH). The H131R polymorphism (rs1801274) in the FCGR2A gene has been associated with many inflammatory diseases, but has not been investigated in relation to AMD. The goal of our study was the development of a novel method for Y402H (g.43097C>T) genotyping, the confirmation of its association with AMD in the Greek population and the investigation of the H131R polymorphism in AMD. METHODS: DNAs were extracted from blood samples of 120 patients with the severe wet form of AMD and 103 age- and sex-matched controls, all of whom were clinically evaluated. A real-time PCR and melting curve analysis method for Y402H genotyping was developed in the LightCycler platform, after in silico design of appropriate primers and probes. Genotyping for H131R was performed using a real-time PCR method previously described by our group. RESULTS: The novel genotyping method for Y402H in the CFH gene is fast, reproducible (Efficiency=1.79, reproducibility CVCq=3.33%, Tm C allele 53.36 °C and T allele 61.91 °C, ΔTm=8.55) and accurate as results were confirmed with the gold standard DNA Sequencing method. CONCLUSIONS: The present study confirmed the association between CFH Y402H SNP and wet AMD in the Greek population (OR=1.77, p=0.002). FCGR2A H131R polymorphism was investigated for the first time in this present study for possible correlation with wet AMD and a statistically significant association was detected (OR=1.74, p=0.006), that awaits further confirmation in a larger set of samples.

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.

A de novo 2.9 Mb interstitial deletion at 13q12.11 in a child with developmental delay accompanied by mild dysmorphic characteristics.

BACKGROUND: Proximal deletions in the 13q12.11 region are very rare. Much larger deletions including this region have been described and are associated with complex phenotypes of mental retardation, developmental delay and various others anomalies. RESULTS: We report on a 3-year-old girl with a rare 2.9 Mb interstitial deletion at 13q12.11 due to a de novo unbalanced t(13;14) translocation. She had mild mental retardation and relatively mild dysmorphic features such as microcephaly, flat nasal bridge, moderate micrognathia and clinodactyly of 5(th) finger. Molecular karyotyping revealed a deletion on the long arm of chromosome 13 as involving sub-bands 13q12.11, a deletion of about 2.9 Mb. DISCUSSION: The clinical application of array-CGH has made it possible to detect submicroscopical genomic rearrangements that are associated with varying phenotypes.The description of more patients with deletions of the 13q12.11 region will allow a more precise genotype-phenotype correlation.

Systematic review of the association between Alzheimer's disease and chronic glaucoma.

A potential association between Alzheimer's disease (AD) and chronic glaucoma has been suggested but results of epidemiological studies have been inconsistent. Therefore, we performed a systematic review and critical appraisal of this literature. We searched systematically in PubMed from December 1964 to September 2013 and identified 239 articles potentially relevant for abstract and full-text review. Statistical heterogeneity (variability) across studies was evaluated using the Cochran Q test and the I (2) statistic, and the Newcastle-Ottawa score was used to assess study quality. Ten studies were finally selected. Compared to non-demented participants, patients with AD had a statistically significant decreased risk of glaucoma but the results were very heterogeneous, and thus summary estimates were not reported (I (2), 89%; P heterogeneity, <0.001). The study results ranged from large positive relative risks identified in small and poorly-conducted studies to weak inverse associations or null estimates observed in some cohort and record-linkage studies, but the summary estimates were essentially driven by a large retrospective cohort using medical claims that may be afflicted by underdiagnosis bias. There was also evidence for substantial publication bias (Egger's P≤0.01). The association of AD and glaucoma is heterogeneous and most studies are small and inadequately designed. Large prospective studies with long follow-ups are warranted to clarify this association.

Study of microvascular density and expression of vascular endothelial growth factor and its receptors in cancerous and precancerous lesions of the eyelids.

BACKGROUND/AIM: Tumor angiogenesis has been the subject of intensive research in recent years in many tumor types. Studies involving epithelial skin tumors are few to date. We evaluated tumor angiogenesis and lymphangiogenesis in cancerous and pre-cancerous lesions of the eyelids using immunohistochemical techniques. MATERIALS AND METHODS: The study included 147 formalin-fixed, paraffin-embedded samples. We studied cancerous lesions of the eyelid skin such as basal cell carcinoma, squamous and basosquamous cell carcinoma and pre-cancerous lesions such as actinic keratosis and Bowen's disease. We applied immunohistochemical staining using antibodies to investigate angiogenic and lymphangiogenic molecular factors, such as vascular endothelial growth factor (VEGF) and its receptors. We recorded the microvascular density of these tumors by using the marker CD-105, a specific antibody against endoglin protein. RESULTS: Data analysis showed that the molecular factors that control angiogenesis are expressed in high proportions in the tumors studied and that this expression is positively-correlated with tumor microvascular density. Furthermore, correlations emerged with the mean diameter of these tumors. We also found differences in microvascular density between pre-cancerous and cancerous eyelid lesions. CONCLUSION: Activation of the angiogenic molecular factors results in intratumoral and peritumoral microvascularity formation at initial tumor growth. As the tumor attains a certain size and microvascular network, some VEGF receptors appear to decrease. Tumor angiogenesis appears to be active in cutaneous malignancies of the eyelids; therefore our hypothesis of a potential anti-angiogenic therapy for the studied tumors needs investigation in future studies.