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 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.

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.

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.

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.

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.

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.

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.

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.

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.

Investigation of founder effects for the Thr377Met Myocilin mutation in glaucoma families from differing ethnic backgrounds.

PURPOSE: The aim of this study was to determine if there is a common founder for the Thr377Met myocilin mutation in primary open angle glaucoma (POAG) families with various ethnic backgrounds. METHODS: Genomic DNA of 24 POAG-affected individuals from nine pedigrees with the Thr377Met mutation and 104 unaffected family members was genotyped with six microsatellite markers and four single nucleotide polymorphisms. The families were from Greece, India, Finland, the USA, and Australia. To assess the degree of linkage disequilibrium across MYOC in the general population we also investigated data generated from the HapMap consortium. RESULTS: Three distinct haplotypes associated with the Thr377Met myocilin mutation were identified. The families from the USA and Greece, as well as the three Australian families originating from Greece and the former Yugoslavian Republic of Macedonia had one common haplotype. Interestingly, however, HapMap data suggest that linkage disequilibrium across MYOC was not strong. CONCLUSIONS: The Thr377Met myocilin mutation has arisen at least three separate times. Evidence for genetic founder effects in this prevalent age-related, yet heterogeneous, disease has important implications for future gene identification strategies.

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.

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.

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.