Circulating Anti-Endothelial Cell Antibodies in Patients with Geographic Atrophy Related to Dry Age-Related Macular Degeneration.

Background and Objectives: Age-related macular degeneration (AMD) is one of the leading causes of central vision loss among elderly patients, and its dry form accounts for the majority of cases. Although several causes and mechanisms for the development and progression of AMD have previously been identified, the pathogenesis of this complex disease is still not entirely understood. As inflammation and immune system involvement are strongly suggested to play a central role in promoting the degenerative process and stimulating the onset of complications, we aimed to analyze the frequency of serum anti-retinal (ARAs) and anti-endothelial cell antibodies (AECAs) in patients with dry AMD and to determine their relationship with the clinical features of the disease, notably the area of geographic atrophy (GA). Materials and Methods: This study included 41 patients with advanced-stage dry AMD and 50 healthy controls without AMD, matched for gender and age. ARAs were detected by indirect immunofluorescence using monkey retina as an antigen substrate, and the presence of AECAs was determined using cultivated human umbilical vein endothelial cells and primate skeletal muscle. Results: ARAs were detected in 36 (87.8%) AMD patients (titers ranged from 1:20 to 1:320) and in 16 (39.0%) (titers ranged from 1:10 to 1:40) controls (p = 0.0000). Twenty of the forty-one patients (48.8%) were positive for AECAs, while in the control group, AECAs were present only in five sera (10.0%). The titers of AECAs in AMD patients ranged from 1:100 to 1:1000, and in the control group, the AECA titers were 1:100 (p = 0.0001). There were no significant correlations between the presence of AECAs and disease activity. Conclusions: This study demonstrates a higher prevalence of circulating AECAs in patients with dry AMD; however, no correlation was found between the serum levels of these autoantibodies and the area of GA.

Diagnostic Challenges in Inflammatory Choroidal Neovascularization.

Inflammation plays a key role in the induction of choroidal neovascularization (CNV). Inflammatory choroidal neovascularization (iCNV) is a severe but uncommon complication of both infectious and non-infectious uveitides. It is hypothesized that its pathogenesis is similar to that of wet age-related macular degeneration (AMD), and involves hypoxia as well as the release of vascular endothelial growth factor, stromal cell-derived factor 1-alpha, and other mediators. Inflammatory CNV develops when inflammation or infection directly involves the retinal pigment epithelium (RPE)-Bruch's membrane complex. Inflammation itself can compromise perfusion, generating a gradient of retinal-choroidal hypoxia that additionally promotes the formation of choroidal neovascularization in the course of uveitis. The development of choroidal neovascularization may be a complication, especially in conditions such as punctate inner choroidopathy, multifocal choroiditis, serpiginous choroiditis, and presumed ocular histoplasmosis syndrome. Although the majority of iCNV cases are well defined and appear as the "classic" type (type 2 lesion) on fluorescein angiography, the diagnosis of iCNV is challenging due to difficulties in differentiating between inflammatory choroiditis lesions and choroidal neovascularization. Modern multimodal imaging, particularly the recently introduced technology of optical coherence tomography (OCT) and OCT angiography (noninvasive and rapid imaging modalities), can reveal additional features that aid the diagnosis of iCNV. However, more studies are needed to establish their role in the diagnosis and evaluation of iCNV activity.

Use of Optical Coherence Tomography and Optical Coherence Tomography Angiography in the Diagnosis and Follow-Up of Endogenous Candida Endophthalmitis: A Case Report.

Background: Endogenous Candida endophthalmitis (ECE) is a rare but sight-threatening disease. Patients with ECE present with various clinical signs and symptoms, which can complicate the diagnosis. The aim of this report was to demonstrate the outcomes of treatment and to diagnose macular complications caused by intraocular inflammation. Case presentation: A 41-year-old woman with a history of acute intermittent porphyria presented with a progressive vision loss in her left eye. Left-eye OCT revealed findings consistent with a fungal etiology, which was confirmed by the culture of swabs collected from a central vein catheter. The outcomes of intravenous fluconazole treatment were not satisfactory, and the patient developed recurrent attacks of porphyria, suggesting a porphyrogenic effect of systemic antifungal therapy. Repeated intravitreal injections with amphotericin B led to a gradual regression of inflammatory lesions. However, follow-up examinations revealed active macular neovascularization (MNV) on both OCT and OCTA scans. The patient was administered intravitreal bevacizumab. At the 11th month of follow-up, OCT and OCTA scans showed significant inflammatory lesions regression with macula scarring, and no MNV activity was detected. Conclusions: This case highlights the importance of OCT and OCTA as valuable noninvasive imaging techniques for the identification of ECE, the monitoring of its clinical course, and the diagnosis of macular complications.

High prevalence of thrombophilic risk factors in patients with central retinal artery occlusion.

INTRODUCTION: Central retinal artery occlusion (CRAO) is a common cause of blindness and visual morbidity. In the majority of cases, it is related to thrombotic embolism. Nevertheless, the role of inherited or acquired thrombophilic risk factors in CRAO pathogenesis has not been comprehensively studied. METHODS: In 126 CRAO patients (66 [52.4%] men, median age 55 [range: 18-80] years) and 107 matched controls (56 [52.3%] men, median age 53 [range: 34-78] years) we evaluated classical atherosclerotic risk factors, including serum lipid profile and glucose level, analyzed intima-media complex thickness (IMT) of external carotid arteries, and performed transthoracic echocardiography. Furthermore, we established the prevalence of inherited and acquired thrombophilic risk factors, such as factor V Leiden (FVL) and prothrombin 20210 G/A genetic variants, plasma activity of factor (F) VIII, protein C and antithrombin activity, and free protein S levels. We also assessed the presence of antiphospholipid antibodies (APLA) and evaluated blood homocysteine in all enrolled subjects. Additionally, we estimated the occurrence of Val34Leu polymorphism of the A subunit of coagulation factor XIII (FXIII-A) in both groups as a potential thrombosis-protecting factor. RESULTS: Among traditional atherosclerotic risk components, obesity/overweight and hypercholesterolemia were the most common in the CRAO group and occurred in 103 (81.7%) and 85 (67.5%) patients, respectively. CRAO patients also had elevated IMT and altered echocardiographic parameters, indicating diastolic cardiac dysfunction. In thrombophilia investigations, at least one laboratory risk factor occurred in 72.2% (n = 91) of CRAO patients, with APLA as the most frequent, detected in 38.1% (n = 48) of them (almost seven times more frequent than in controls, p < 0.001). Deficiencies in protein C activity and free protein S levels were also common in the CRAO group, reported in 17.5% (n = 22) and 19.8% (n = 25) of patients, respectively. Interestingly, among two analyzed prothrombotic genetic variants, only the FVL was related to CRAO, with the allelic frequency 2.4 times more prevalent than in controls (p = 0.044). Finally, the CRAO group was characterized by hyperhomocysteinemia, almost twice as common as in controls (p = 0.026). Antithrombin deficiency, elevated FVIII, and FXIII-A Val34Leu polymorphism were not associated with CRAO. CONCLUSIONS: Our findings suggest that thrombophilia plays a vital role in the pathogenesis of CRAO. Thus, proper laboratory screening should be considered in the primary and secondary prevention of those episodes, with implementing appropriate therapy as needed.

Diagnostic and Therapeutic Challenges in a Patient with Radiation Retinopathy Complicated by Corticosteroid-Induced Central Serous Chorioretinopathy.

Central serous chorioretinopathy (CSC) is a common chorioretinal disorder. It has been postulated that impaired retinal pigment epithelium and hyperpermeability of the choriocapillaris may be involved in the development of CSC, but the exact pathomechanism has not been established. We report an unusual case of a middle-aged man who developed CSC after triamcinolone acetonide injection for macular edema. Edema developed as a late complication of radiation retinopathy after brachytherapy for childhood retinoblastoma. Steroid treatment is an important risk factor for CSC, but the underlying causative mechanisms have not been fully elucidated. It is important to increase the awareness of this link among clinicians who prescribe exogenous corticosteroids, irrespective of the route of administration.

Genetic Variants of Complement Factor H Y402H (rs1061170), C2 R102G (rs2230199), and C3 E318D (rs9332739) and Response to Intravitreal Anti-VEGF Treatment in Patients with Exudative Age-Related Macular Degeneration.

Background and Objectives: To assess the association between the single nucleotide polymorphisms (SNPs) in the genes encoding complement factors CFH, C2, and C3 (Y402H rs1061170, R102G rs2230199, and E318D rs9332739, respectively) and response to intravitreal anti-vascular endothelial growth factor (VEGF) therapy in patients with exudative age-related macular degeneration (AMD). Materials and Methods: The study included 111 patients with exudative AMD treated with intravitreal bevacizumab or ranibizumab injections. Response to therapy was assessed on the basis of best-corrected visual acuity (BCVA) and central retinal thickness (CRT) measured every 4 weeks for 12 months. The control group included 58 individuals without AMD. The SNPs were genotyped by a real-time polymerase chain reaction in genomic DNA isolated from peripheral blood samples. Results: The CC genotype in SNP rs1061170 of the CFH gene was more frequent in patients with AMD than in controls (p = 0.0058). It was also more common among the 28 patients (25.2%) with poor response to therapy compared with good responders (p = 0.0002). Poor responders, especially those without this genotype, benefited from switching to another anti-VEGF drug. At the last follow-up assessment, carriers of this genotype had significantly worse BCVA (p = 0.0350) and greater CRT (p = 0.0168) than noncarriers. TT genotype carriers showed improved BCVA (p = 0.0467) and reduced CRT compared with CC and CT genotype carriers (p = 0.0194). No associations with AMD or anti-VEGF therapy outcomes for SNP rs9332739 in the C2 gene and SNP rs2230199 in the C3 gene were found. Conclusions: The CC genotype for SNP rs1061170 in the CFH gene was associated with AMD in our population. Additionally, it promoted a poor response to anti-VEGF therapy. On the other hand, TT genotype carriers showed better functional and anatomical response to anti-VEGF therapy at 12 months than carriers of the other genotypes for this SNP.

Central Retinal Artery Occlusion Is Related to Vascular Endothelial Injury and Left Ventricular Diastolic Dysfunction.

Central retinal artery occlusion (CRAO) is an emergency state characterized by sudden, painless vision impairment. Patients with CRAO have an increased risk of cardiovascular events, including stroke, likely related to vascular endothelial damage. Therefore, we investigated flow-mediated dilatation (FMD) of the brachial artery as a marker of endothelial dysfunction, intima-media complex thickness (IMT) of the common carotid artery, pointing to the arterial wall atherosclerotic alteration, and transthoracic echocardiographic parameters in 126 consecutive CRAO patients (66 men [52.4%], median age 55 years) and 107 control participants (56 men [52.3%], matched by age, sex, and body mass index). Most CRAO patients (n = 104, 82.5%) had at least one internal medicine comorbidity, mainly hypercholesterolemia and hypertension, which coexisted in one-fourth of them. Furthermore, they had a 38.2% lower relative increase of FMD (FMD%) and a 23.1% thicker IMT compared to the controls (p < 0.001, both, also after adjustment for potential confounders). On echocardiography, the CRAO group was characterized by increased dimensions of the left atrium and thicker left ventricular walls, together with impaired left ventricular diastolic function. CRAO is related to vascular endothelial damage, atherosclerosis, and left ventricular diastolic cardiac dysfunction. Thus, non-invasive ultrasound assessments, such as FMD%, IMT, and echocardiography, may be helpful in screening patients with increased CRAO risk, particularly those with other comorbidities.

Acute Zonal Occult Outer Retinopathy in a Patient Suffering from Epilepsy: Five-Year Follow-Up.

We report an unprecedented case of a young patient with epilepsy coexisting with acute zonal occult outer retinopathy (AZOOR), a rare white dot syndrome of unknown etiology, associated with damage to the large zones of the outer retina. Recently, it has been established that epileptic episodes contribute to an inflammatory response both in the brain and the retina. A 13-year-old male patient with epilepsy was referred by a neurologist for an ophthalmologic consultation due to a sudden deterioration of visual acuity in the left eye. The examination, with a key role of multimodal imaging including color fundus photography, fluorescein angiography, indocyanine green angiography (ICGA), fundus autofluorescence (FAF), swept-source optical coherence tomography (SS-OCT) with visual field assessment, and electroretinography indicated AZOOR as the underlying entity. Findings at the first admission included enlargement of the blind spot in visual field examination along a typical trizonal pattern, which was revealed by FAF, ICGA, and SS-OCT in the left eye. The right eye exhibited no abnormalities. Seminal follow-up revealed no changes in best corrected visual acuity, and multimodal imaging findings remain unaltered. Thus, no medical intervention is required. Our case and recent laboratory findings suggest a causative link between epilepsy and retinal disorders, although this issue requires further research.

Imbalance in the Levels of Angiogenic Factors in Patients with Acute and Chronic Central Serous Chorioretinopathy.

BACKGROUND: The pathogenesis of central serous chorioretinopathy (CSC) remains a subject of intensive research. We aimed to determine correlations between plasma levels of selected angiogenic factors and different forms of CSC. METHODS: Eighty patients were enrolled in the study including 30 with a chronic form of CSC, 30 with acute CSC, and 20 controls. Presence of active CSC was determined by fluorescein angiography (FA), indocyanine green angiography (ICGA), and swept-source optical coherence tomography (SS-OCT). Plasma concentrations of angiopoietin-1, endostatin, fibroblast growth factor, placental growth factor (PlGF), platelet-derived growth factor (PDGF-AA), thrombospondin-2, vascular endothelial growth factor (VEGF), VEGF-D, and pigment epithelium-derived factor were measured, and the results were compared between groups. Additionally, mean choroidal thickness (CT) was measured in all patients. RESULTS: Levels of angiopoietin-1 (p = 0.008), PlGF (p = 0.045), and PDGF-AA (p = 0.033) differed significantly between the three groups. Compared with the controls, VEGF (p = 0.024), PlGF (p = 0.013), and PDGF-AA (p = 0.012) were downregulated in the whole CSC group, specifically PDGF-AA (p = 0.002) in acute CSC and angiopoietin-1 (p = 0.007) in chronic CSC. An inverse correlation between mean CT and VEGF levels was noted in CSC patients (rho = -0.27, p = 0.044). CONCLUSIONS: Downregulated angiopoietin-1, VEGF, PDGF-AA, and PlGF levels may highlight the previously unknown role of the imbalanced levels of proangiogenic and antiangiogenic factors in the pathogenesis of CSC. Moreover, downregulated VEGF levels may suggest that choroidal neovascularization in CSC is associated with arteriogenesis rather than angiogenesis.

Altered plasma cytokine levels in acute and chronic central serous chorioretinopathy.

PURPOSE: To evaluate plasma levels of selected cytokines and investigate their correlation with choroidal thickness (CT) in patients with acute and chronic central serous chorioretinopathy (CSC). METHODS: We enrolled 30 patients with acute CSC, 30 patients with chronic CSC and 20 controls. Plasma concentrations of 12 cytokines, interleukins IL-8, IL-1ß, IL-2, IL-4, IL-5, IL-6, IL-10 and IL-12 p70, granulocyte-macrophage colony-stimulating factor, interferon-γ, tumour necrosis factor-α (TNF-α) and vascular endothelial growth factor (VEGF), were measured using multiplex immunoassays. Differences in cytokine levels between groups were assessed. We also investigated correlations between cytokine levels and CT using swept-source optical coherence tomography, as well as an association between plasma cytokine profile and systemic hypertension. RESULTS: We noted differences in IL-6 (p = 0.005), IL-10 (p = 0.03), IL-12 p70 (p = 0.028) and VEGF (p = 0.029) levels between groups. Pro-inflammatory IL-12 p70 and multidirectional IL-10 cytokines were upregulated, while pro-angiogenic VEGF was downregulated in chronic CSC as compared with controls (p = 0.005, p = 0.025 and p = 0.027, respectively). Interleukin-6 (IL-6) was upregulated in acute and chronic CSC (p = 0.030 and p = 0.005, respectively). Interleukin-5 (IL-5), IL-6 and IL-12 levels correlated with mean CT in acute CSC (p = 0.008, p = 0.003 and p = 0.044, respectively), while IL-8, IL-6 and TNF-α plasma levels correlated with hypertension in chronic CSC (p = 0.005, p = 0.033 and p = 0.001, respectively). CONCLUSION: We provided new evidence for the possible role of plasma cytokines in the pathogenesis of CSC. Our results suggest that IL-6 may be important in the pathophysiology of acute and chronic CSC. The association between inflammatory response and hypertension in patients with CSC was also confirmed.

Toxocara Optic Disc Granuloma: Deep Range Imaging Optical Coherence Tomography Findings.

We aimed to present a unique case of a child with an optic disc granuloma with exudative retinal detachment as a manifestation of ocular toxocariasis. The response to systemic therapy was assessed using deep range imaging optical coherence tomography. This imaging technique was the most accurate for identification of retinal, macular and vitreous changes associated with this intraocular pathology.

SWEPT-SOURCE OPTICAL COHERENCE TOMOGRAPHY TO DETERMINE THE RECOVERY OF RETINAL LAYERS AFTER INVERTED INTERNAL LIMITING MEMBRANE FLAP TECHNIQUE FOR MACULAR HOLE: Correlation With Visual Acuity Improvement.

PURPOSE: To analyze the recovery of retinal lines using swept-source optical coherence tomography after inverted internal limiting membrane flap technique to treat full-thickness macular hole, and the relationship between best-corrected visual acuity and retinal line repair. METHODS: Thirty-eight eyes were evaluated for recovery of the external limiting membrane, photoreceptor inner segment/outer segment junction line, and cone outer segment tips (COST) line. Correlation between the recovery of retinal lines and best-corrected visual acuity improvement was analyzed 6 months after surgery. RESULTS: The closure rate of full-thickness macular hole was 97%. The best recovery rates were associated with external limiting membrane line recovery (25 eyes, 65.8%), followed by inner segment/outer segment line recovery (22 eyes, 57.9%), and less frequently, COST line recovery (9 eyes, 23.7%); moreover, recovery of the COST line was apparent only in eyes with recovered external limiting membrane and inner segment/outer segment lines. Mean postoperative visual acuity in the COST line recovery group (COST+) was 20/42 (0.48, 0.33 logarithm of the minimum angle of resolution), compared with 20/95 (0.21, 0.68 logarithm of the minimum angle of resolution) without COST line recovery (COST-). Final visual acuity was significantly better in the COST+ group compared with the COST- group (P = 0.002). CONCLUSION: Cone outer segment tips line recovery is correlated with best-corrected visual acuity improvement for eyes treated with inverted internal limiting membrane flap technique for full-thickness macular hole.

Serum anti-endothelial cell antibodies in patients with age-related macular degeneration treated with intravitreal bevacizumab.

PURPOSE: To analyse the prevalence and changes in circulating anti-endothelial cell antibodies (AECA) during anti-vascular endothelial growth factor (anti-VEGF) therapy. METHODS: Ninety-eight patients with exudative age-related macular degeneration (AMD) were treated with intravitreal bevacizumab. Fifty sex- and age-matched healthy subjects were used as controls. Serum AECA were detected using indirect immunofluorescence on primate skeletal muscle and cultivated human umbilical vein endothelial cells (HUVEC). These investigations were repeated at 4-week intervals within 8 months of follow-up. RESULTS: At baseline examination, 30 of the 98 patients (30.6%) were positive for AECA. The titres of AECA ranged from 1:10 to 1:320. In the control group, AECA were present in only nine sera (18%) with titres ranging between 1:20 and 1:80 (p = 0.0000). The greatest rates of reduction of AECA titres were observed during the 'loading' phase of therapy. During the 'maintenance' phase, the rates of changes in serum AECA levels were less significant and remained constant. In follow-up period in 13 patients (13.3%), serum AECA were detected de novo in titres of 1:10 to 1:80. Statistical analysis did not show any significant correlation between the presence of AECA and activity of the disease. CONCLUSIONS: There is growing evidence that AMD is an immune-mediated disease, and thus it cannot be excluded that AECA may be involved in its pathogenesis and progression. We also speculate that AECA develop in response to retinal damage and anti-VEGF therapy.

[Cesarean section and eye disorders]. / Ciecie cesarskie a zaburzenia zwiazane z narzadem wzroku.

Recently, a growing tendency for cesarean birth has been noted both, in Poland and worldwide. Non-obstetric problems constitute a large part of indications for cesarean section. Many ophthalmologists and obstetricians still believe that high myopia, the presence of peripheral retinal degenerations, history of retinal detachment surgery, diabetic retinopathy, or glaucoma are indications for surgical termination of pregnancy. However, these recommendations are not evidence-based. The literature offers no proof that high myopia and previous retinal surgery increase the risk of retinal detachment during spontaneous vaginal delivery. There is only one indication for cesarean section in myopic patients, i.e. the presence of choroidal neovascularization, which can cause subretinal bleeding with acute visual loss. Prolonged and intensified Valsalva maneuver during labor in patients with an active proliferative diabetic retinopathy may be an indication for an elective cesarean section. Uterine contractions during the second stage of vaginal delivery lead to a marked elevation of intraocular pressure. Intraocular pressure fluctuations during the delivery may damage retinal ganglion cells, resulting in further progression of visual field. Thus, glaucoma associated with advanced visual field changes is the next ophthalmic indication for cesarean section. The report presents the current state of knowledge concerning the effect of pregnancy on pre-existing ocular disorders and the influence of physiological changes on the clinical course of these diseases during the stages of natural delivery. The authors discuss also the ophthalmic indications for cesarean section.

THE ANALYSIS OF SPONTANEOUS CLOSURE MECHANISMS AND REGENERATION OF RETINAL LAYERS OF A FULL-THICKNESS MACULAR HOLE: Relationship with Visual Acuity Improvement.

PURPOSE: To analyze the spontaneous closure mechanisms, retinal layer regeneration, and best corrected visual acuity (BCVA) in the full-thickness macular hole (FMTH). METHODS: Ten eyes of 10 patients were studied. The measured outcomes included the time of persisting clinical symptoms and spontaneous closure of FTMH, BCVA, and spectral domain optical coherence tomography (SD-OCT) of vitreomacular interface. RESULTS: In a follow-up period, all eyes showed closure of FTMH (closure range: 3-64 weeks). The "bridging" phenomenon was a main mechanism of a spontaneous FMTH closure. Additionally, posterior vitreous detachment with the release of vitreomacular traction was observed in 4 eyes (40%). The statistical analysis showed that shorter the duration of symptoms, shorter the duration of the spontaneous FTMH closure (r = 0 673, P < 0 05). No significant association was observed between the time of spontaneous closure FTMH, the age of patients, and BCVA. The regeneration of the outer nuclear layer (ONL) and external limiting membrane (ELM) was confirmed in 10 and 9 eyes, respectively. In six eyes, connections between inner and outer segments of photoreceptors were rebuilt; in these cases, the final BCVA was the best. None of the eyes showed the regeneration of the connections between the outer segments of photoreceptor and retinal pigment epithelium (RPE). CONCLUSION: The main mechanism leading to a spontaneous closure of FTMH is the "bridging" phenomenon. Vitreous detachment and vitreomacular traction release are not necessary conditions promoting the closure of FTMH. Shorter duration of symptoms and regeneration of photoreceptors IS/OS interface provide a better final BCVA.

Association between Y402H, E318D and R102G polymorphisms of complement proteins genes and the response to intravitreal anti-VEGF treatment in patients with neovascular age-related macular degeneration. / Wplyw polimorfizmów Y402H, E318D oraz R102G genów kodujacych bialka ukladu dopelniacza na wyniki leczenia doszklistkowymi iniekcjami czynnika anty-VEGF u chorych na wysiekowa postac zwyrodnienia plamki zwiazanego z wiekiem.

Aim: To analyze the correlation between the E318D rs9332739 polymorphism of the C2 complement factor; R102G rs2230199 polymorphism of the C3 complement factor as well as the Y402H rs1061170 polymorphism of the CFH complement factor and risk of AMD as well as the response to anti-VEGF therapy. Material and methods: 106 patients with age-related macular degeneration treated with intravitreal ranibizumab or bevacizumab were enrolled. The response to treatment was assessed at 4 weeks intervals for 6 months and was based on the results of best corrected visual acuity and central retinal thickness measurements compared to the respective baseline values. The control group consisted of 58 healthy volunteers. The testing was performed using genetic probes (TaqMan Applied Biosystems) in all cases Results: E318D (C2) and R102G (C3) polymorphisms were not associated with age-related macular degeneration. The genotype CC of Y402H (CFH) polymorphism was more frequent in patients with age-related macular degeneration as compared to controls [OR=3.09 (1.28­7.49); p=0.0069]. At the last follow-up, patients with age-related macular degeneration positive for the CC rs1061170 CFH genotype presented with worse best corrected visual acuity and increased central retinal thickness as compared to their counterparts negative for this genotype [OR=7.67 (1.77­33.12), p=0.0052]. Among 25.47% of "non-responders", the CC rs1061170 CFH genotype was present in 51.8% of cases. In patients with the TT rs1061170 CFH genotype the final best corrected visual acuity was better and a significant reduction of central retinal thickness was demonstrated in all those cases, as compared to subjects with the CC rs1061170 CFH genotype [OR=0.31 (0.11-0.84), p=0.0194]. Conclusions: The study showed that the CC rs1061170 CFH genotype may be associated with the age-related macular degeneration. Additionally, the CC rs1061170 CFH genotype may promote a negative response to anti-VEGF treatment, while patients with the TT rs1061170 CFH genotype showed better functional and structural response to anti-VEGF agents.

Autologous internal limiting membrane flap graft as a modification of the inverted flap technique in the treatment of full thickness macular holes ­ case report. / Autologiczny przeszczep platka blony granicznej wewnetrznej jako modyfikacja techniki odwróconego platka w leczeniu otworów w plamce ­ opis przypadku.

The aim of this paper is to present the autologous internal limiting membrane flap graft as a modification of the inverted flap technique in the surgical management of the full thickness macular hole. The 50-year old male admitted as an inpatient due to the full thickness macular hole was treated with 23G vitrectomy (Constellation). During the follow-up period his best corrected visual acuity improved significantly from 0.05 to 0.5. The optical coherence tomography confirmed the regeneration of the inner and outer retinal segments as well as of the internal limiting membrane. Autologous internal limiting membrane flap graft may be an alternative for cases of complicated full thickness macular holes and those patients in whom the conventional inverted flap technique cannot be used for various reasons.

Retinoblastoma in Patients with 13q deletion syndrome - case series.

Deletion of the long arm of chromosome 13 (13q deletion syndrome) is very rare chromosomal aberration which causes mental retardation and multiple congenital malformations. Furthermore, it is associated with the increased risk of retinoblastoma. The aim of the paper was to present two cases of retinoblastomna in children with 13q deletion syndrome, discussing the diagnostic and therapeutic management, clinical manifestation and the importance of genetic testing which helps to determine the type of retinoblastoma and may also contribute to the diagnosis of other congenital abnormalities associated with intraocular tumors.

The use of mineralocorticoid receptor antagonists in chronic central serous chorioretinopathy.

AIM: To assess the effect of eplerenone on macular structure and function in patients with chronic central serous chorioretinopathy. MATERIAL AND METHODS: 17 eyes of 16 patients (aged 32-66 years) with chronic central serous chorioretinopathy treated at the Department of Ophthalmology and Ocular Oncology, Jagiellonian University in Cracow were enrolled. The duration of symptoms ranged between 4 and 24 months. The patients were dosed with eplerenone according to the scheme: first 25 mg/day for a week, then 50 mg/day for 3 months. The baseline examination and two follow-up visits (after 1-1,5 months and after 3-4 months respectively) involved best corrected visual acuity (Snellen, decimal scale), central retinal thickness in optical coherence tomography and visual disturbances in Amsler test. RESULTS: The mean best corrected visual acuity improved from 0.61 (±0.25) to 0.67 (±0.28) and 0.72 (±0.28) at the first and second follow-up appointment, respectively. Central retinal thickness declined from 367 µm (±70) to 264 µm (±50) and 248 µm (±50) at the first and second follow up appointment, respectively (p<0.05). Amsler test findings improved in 10 eyes (58.8%), while the deterioration in central vision remained unchanged in 7 eyes (41.2%) at the first follow up appointment. During the second follow-up appointment, though, Amsler test improvement was reported in 7 eyes (50%), while the deterioration in central vision remained unchanged in 7 eyes (50%). CONCLUSIONS: Our study suggests that eplerenone may provide an alternative treatment of chronic central serous chorioretinopathy, especially in patients with known contraindications to or ineligible for other treatments (for instance, retinal laser photocoagulation). Further randomized controlled trial is required.

[The genetic variability of complement system in pathogenesis of age-related macular degeneration]. / Zmiennosc genetyczna ukladu dopelniacza w patogenezie zwyrodnienia plamki zwiazanego z wiekiem.

Age-related macular degeneration is the leading cause of irreversible central vision impairment in people aged over 50 in developed countries. Age-related macular degeneration is a complex disease derived from environmental, immune and genetic factors. The complement pathway has been implicated in the pathogenesis of many diseases. Recently, variants in several genes, such as complement H (CFH), complement factor B (CFB), complement 2 (C2), and complement 3 (C3), encoding complement pathway proteins, have been identified as associated with age-related macular degeneration. However, the associations between these genes and age-related macular degeneration varied due to genetic variation within populations and various ethnics groups. The strongest association was found between the age-related macular degeneration and SNP Y402H rs 1061170 variant of CFH gene, which is present in 30% to 50% of age-related macular degeneration patients in Caucasian population and which is a risk factor for the development of age-related macular degeneration. Cohort studies showed that polymorphism Arg102Gly (SNP rs 2230199) of C3 protein could serve as a high-risk genetic marker for the development of age-related macular degeneration. Other rare variants of C3 (Lys155Gln, Lys65Gln, Arg735Trp, Ser1619Arg), may also be associated with a high incidence of age-related macular degeneration in some ethnic groups. A protective haplotype of variants E318D and IVS10 in the C2 gene as well as L9H and R320 in the BF were associated with age-related macular degeneration but only in Caucasians. The genetic findings in age-related macular degeneration patients stress the importance of detailed phenotyping to identify age-related macular degeneration subtypes, which may be associated with the presence of different polymorphisms and various environmental risk factors in any population. Further studies may be helpful to improve the effectiveness of prophylaxis and therapeutic options in age-related macular degeneration oatients.