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Abstract The studies evaluating the impact of Her2 levels in neoadjuvant setting have conflicting data. The aim of the study was to evaluate the prognostic impact of Her2 status in early triple negative breast cancer(TNBC). In the study TNBC patients who were treated with neoadjuvant chemotherapy (NAC) and surgery were analyzed retrospectively. The primary aim of the study was to analyze the impact of Her2 status(Her2-0 and Her2-low) on pathological complete response (pCR). The secondary objectives were disease free survival (DFS) and overall survival (OS). 620 female triple negative breast cancer patients were evaluated. 427 patients (68.9%) had Her2-0 and 193(31.1%) had her2-low pathology. The pCR rates were similar between Her2-0 and Her2-low patients (33.0% vs. 27.5%, p = 0.098). Although Her2-0 group has better DFS (106 vs. 50 months, p = 0.002), in multivariate analysis it had a HR of 0.74 (p = 0.06). In addition, OS was similar (131 vs. 105 months, p = 0.13) with a HR of 0.88 (p = 0.61). In multivariate analysis; presence of LVI (HR:2.2 (95% CI 1.1–3.5) p = 0.001), Clinical stage T1/T2 (HR:0.39 (95% CI 0.2–0.6) p

Purpose: To compare the efficacy and complications of Tenon duplication with dura mater covering technique for Ahmed glaucoma valve (AGV) implantation. Methods: This retrospective study included 44 refractory glaucoma patients (44 eyes) who underwent AGV implantation from 2017 to 2020 in the Ophthalmology Clinic of Eskişehir Osmangazi University Hospital and attended regular postoperative follow-ups. The patients were divided based on whether they underwent Tenon duplication technique (group 1: n = 20) or dura mater covering technique (group 2: n = 24) during surgery. The patients’ age, gender, systemic diseases, glaucoma type, pre-op intraocular pressure (IOP), and ocular surgeries were recorded. The groups were compared for IOP level control, early and late complications, postoperative antiglaucomatous medication requirements, glaucoma surgery requirements, presence of postoperative hypertensive phase (HP), and surgical success which was defined as an IOP ≥5 and ≤21 mmHg, with or without antiglaucoma medication. Results: By the end of the mean follow-up (22.6 ± 10.6 months), the success rates were 95% (group 1) and 96% (group 2). The groups showed no differences in postoperative complications, postoperative antiglaucomatous drugs’ onset time, additional glaucoma surgery, need for needling, presence of HP at 6 months postoperatively, and relationship between the glaucoma type and success rates (P values: 0.86, 0.9, 0.48, 0.12, 0.36, and 0.8, respectively). The IOP values at the last follow-up were 15.2 ± 4.1 in group 1 and 14.7 ± 4.8 in group 2. The IOP reduction rates showed no significant differences. Conclusion: Since success and complications are similar in both Tenon duplication and dura mater covering technique, unique grafting materials may not be needed in AGV implantation surgery, except in special cases.

Abstract Background There is no standard treatment recommended at category 1 level in international guidelines for subsequent therapy after cyclin-dependent kinase 4/6 inhibitor (CDK4/6) based therapy. We aimed to evaluate which subsequent treatment oncologists prefer in patients with disease progression under CDKi. In addition, we aimed to show the effectiveness of systemic treatments after CDKi and whether there is a survival difference between hormonal treatments (monotherapy vs. mTOR-based). Methods A total of 609 patients from 53 centers were included in the study. Progression-free-survivals (PFS) of subsequent treatments (chemotherapy (CT, n:434) or endocrine therapy (ET, n:175)) after CDKi were calculated. Patients were evaluated in three groups as those who received CDKi in first-line (group A, n:202), second-line (group B, n: 153) and ≥ 3rd-line (group C, n: 254). PFS was compared according to the use of ET and CT. In addition, ET was compared as monotherapy versus everolimus-based combination therapy. Results The median duration of CDKi in the ET arms of Group A, B, and C was 17.0, 11.0, and 8.5 months in respectively; it was 9.0, 7.0, and 5.0 months in the CT arm. Median PFS after CDKi was 9.5 (5.0–14.0) months in the ET arm of group A, and 5.3 (3.9–6.8) months in the CT arm (p = 0.073). It was 6.7 (5.8–7.7) months in the ET arm of group B, and 5.7 (4.6–6.7) months in the CT arm (p = 0.311). It was 5.3 (2.5–8.0) months in the ET arm of group C and 4.0 (3.5–4.6) months in the CT arm (p = 0.434). Patients who received ET after CDKi were compared as those who received everolimus-based combination therapy versus those who received monotherapy ET: the median PFS in group A, B, and C was 11.0 vs. 5.9 (p = 0.047), 6.7 vs. 5.0 (p = 0.164), 6.7 vs. 3.9 (p = 0.763) months. Conclusion Physicians preferred CT rather than ET in patients with early progression under CDKi. It has been shown that subsequent ET after CDKi can be as effective as CT. It was also observed that better PFS could be achieved with the subsequent everolimus-based treatments after first-line CDKi compared to monotherapy ET.

Objectives:This survey study of ophthalmologists investigated the prevalence and clinical manifestations of ocular surface disease (OSD) in glaucoma patients, assessment methods used, risk factors, glaucoma drugs considered responsible, and treatment approaches.Materials and Methods:A questionnaire prepared jointly by the Turkish Ophthalmological Association Cornea and Ocular Surface Society and Glaucoma Society using SurveyMonkey was sent to ophthalmologists via e-mail. The distribution of parameters was compared with chi-square test and p

Objectives:To evaluate the performance of convolutional neural network (CNN) architectures to distinguish eyes with glaucoma from normal eyes.Materials and Methods:A total of 9,950 fundus photographs of 5,388 patients from the database of Eskişehir Osmangazi University Faculty of Medicine Ophthalmology Clinic were labelled as glaucoma, glaucoma suspect, or normal by three different experienced ophthalmologists. The categorized fundus photographs were evaluated using a state-of-the-art two-dimensional CNN and compared with deep residual networks (ResNet) and very deep neural networks (VGG). The accuracy, sensitivity, and specificity of glaucoma detection with the different algorithms were evaluated using a dataset of 238 normal and 320 glaucomatous fundus photographs. For the detection of suspected glaucoma, ResNet-101 architectures were tested with a data set of 170 normal, 170 glaucoma, and 167 glaucoma-suspect fundus photographs.Results:Accuracy, sensitivity, and specificity in detecting glaucoma were 96.2%, 99.5%, and 93.7% with ResNet-50; 97.4%, 97.8%, and 97.1% with ResNet-101; 98.9%, 100%, and 98.1% with VGG-19, and 99.4%, 100%, and 99% with the 2D CNN, respectively. Accuracy, sensitivity, and specificity values in distinguishing glaucoma suspects from normal eyes were 62%, 68%, and 56% and those for differentiating glaucoma from suspected glaucoma were 92%, 81%, and 97%, respectively. While 55 photographs could be evaluated in 2 seconds with CNN, a clinician spent an average of 24.2 seconds to evaluate a single photograph.Conclusion:An appropriately designed and trained CNN was able to distinguish glaucoma with high accuracy even with a small number of fundus photographs.

Objectives:To determine corneal biomechanical and tomographic factors associated with keratoconus (KC) progression.Materials and Methods:This study included 111 eyes of 111 KC patients who were followed-up for at least 1 year. Progression was defined as the presence of progressive change between the first two consecutive baseline visits in any single parameter (A, B, or C) ≥95% confidence interval or two parameters ≥80% confidence interval for the KC population evaluated by the Belin ABCD progression display. The eye with better initial tomographic findings was chosen as the study eye. Analyzed Pentacam parameters were maximum keratometry (Kmax), minimum pachymetry (Kmin), central corneal thickness, thinnest corneal thickness, 90° vertical anterior and posterior coma data in Zernike analysis, and Belin Ambrosio Enhanced Ectasia Display Final D value. Corneal hysteresis (CH) and corneal resistance factor (CRF) were analyzed together with the waveform parameters obtained with Ocular Response Analyzer (ORA). Factors related to KC progression were evaluated using t-tests and logistic regression tests. Statistical significance was accepted as p

Objectives:Patients with pseudoexfoliation syndrome (PES) can also have sensorineural hearing loss as well as balance problems. Our aim was to evaluate vestibulocochlear system involvement in PES patients.Materials and Methods:The study included 16 subjects with PES (study group) with a mean age of 66.12±5.64 years and 17 healthy subjects (control group) with a mean age of 61.70±8.46 years. Both groups underwent ophthalmological, neuro-otological, audiological, and vestibular evaluation. Pure-tone audiometry and tympanometry were performed as audiological tests and bithermal caloric test and vestibular-evoked myogenic potential (VEMP) testing were used as vestibular tests. The Romberg, tandem Romberg, and Unterberger tests were also performed.Results:In the PES group, bithermal caloric tests revealed right canal paresis in 6 patients, left canal paresis in 3 patients, and bilateral stimulation loss in 2 patients, despite no clinical evidence of balance loss. Paresis was not detected in any of the control subjects. Unilateral VEMP responses could not be obtained in 3 patients in the PES group. The ocular PES patients whose VEMP waves were obtained differed significantly from the control group (p

Objectives:The aim of this study was to investigate the distribution of microbial agents in the early and late postoperative periods in patients with microbial keratitis (MK) after penetrating keratoplasty (PK).Materials and Methods:The records of 36 patients who were clinically diagnosed as having MK after PK were retrospectively reviewed. Culture results were obtained from microbiology records and the organisms that were produced were noted. A case was deemed as viral keratitis based on the clinical appearance, negative cultures, and response to antiviral treatment. Keratitis development times were evaluated in 2 categories: early (within the first year) and late (after year 1) postoperative period. Mann-Whitney U and Kruskal-Wallis tests were used to compare numerical variables that did not show normal distribution and chi-square test was used to compare categorical variables.Results:The majority of MK cases were of bacterial origin (55.5%, n=20), followed by viral (41.7%, n=15) and fungal (2.8%, n=1). Of the 15 cases of early postoperative MK, 10 were bacterial, 4 were viral, and 1 was fungal; however, among cases of late postoperative MK, 10 were bacterial and 11 were viral. The majority (65%) of early and late bacterial infections were caused by gram-positive strains (most commonly staphylococci). Gram-positive bacteria caused keratitis significantly earlier than gram-negative bacteria (p=0.037). Viral and gram-negative bacterial MK was more frequent in the late postoperative period, but the difference was not statistically significant.Conclusion:In our study, bacterial keratitis was more common in post-keratoplasty MK than viral and fungal keratitis. Gram-positive bacteria were the most common causative agents. The increased incidence of gram-negative bacterial agents and viral keratitis in the late postoperative period can be explained by long-term topical steroid use.

Summary: Objective: The purpose of this study was to determine the risk factors that caused non-sentinel lymph nodes (nonSLNs) metastasis by considering the clinicopathological characteristics of patients who have 1–2 sentinel lymph node (SLN) metastasis in the clinical early stage (T1-2, N0) breast cancer. Methods: The demographic and clinicopathological characteristics of the patients were recorded retrospectively. Among these, age, size of the primary breast tumor, tumor localization and multifocality/multicentricity status, preoperative serum Neutrophil/Lymphocyte rate (NLR), c-erbB2/HER2-neu status, Estrogen Receptor (ER) and Progesterone Receptor (PR) status, primary tumor proliferation index (Ki-67), histopathological grade, molecular subtypes, histopathological subtypes, nipple/areola infiltration, Lymphatic Invasion (LI), Vascular Invasion (VI), Perineural Invasion (PNI), number of metastatic SLN m(SLN), mSLN diameter, SLN Extranodal Extension (ENE) status, and number of metastatic nonSLNs were recorded. Results: According to the univariate analysis, the HER2 positivity, Ki-67≥%20, mSLN diameter, LI, VI, PNI, ENE and molecular subtypes were found to be significant. However, the age, tumor localization, multifocality/multicentricity, T stage, ER and PR status, tumor size, histopathological grade and subtypes, nipple/areola infiltration and NLR were not found to be significant. In the multivariate analysis, significant independent predictors in nonSLN metastasis development were found to be HER2 positivity, PNI, mSLN diameter ≥10,5 mm and ENE. Conclusion: The HER2 positivity, ENE, PNI and mSLN diameter ≥10,5 mm were found to be very strong predictors in nonSLN metastasis development. The findings of this study have the potential to be a guideline for surgeons and oncologists when determining their patients' treatment plan. These components are candidates for inclusion among the clinicopathological factors that may be used in the new nomograms due to their higher sensitivity and specificity. Keywords: Axillary lymph node metastasis, Breast cancer, nonsentinel lymph node, Predictor, Sentinel lymph node

Objectives:To assess phosphate and osmolarity levels of chronically administered eye drops commercially available in Turkey.Materials and Methods:A total of 53 topical eye drops including 18 antiglaucoma drugs, 4 nonsteroidal anti-inflammatory drugs (NSAIDs), 10 corticosteroids, 7 antihistaminics, and 14 artificial tears identified using the Vademecum Modern Medications Guideline (2018) were included in the study. Phosphate levels were assessed using Roche Cobas C501 analyzer (Roche Diagnostics GmbH, Mannheim, Germany) and the respective kits. Osmolarity was assessed using Vescor Vapro 5600 vapor pressure osmometer (Sanova Medical Systems, Vienna, Austria). Mean phosphate and osmolarity levels were obtained after averaging three measurements. Eye drops were categorized as isoosmolar, hypoosmolar and hyperosmolar based on physiologic tear osmolarity range (296.5±9.8 mOsm/L).Results:The highest phosphate concentration was found in the antiglaucoma group (20.3±35.4 mmol/L), followed by antihistaminics (17.3±17.9 mmol/L), corticosteroids (15.2±19.1 mmol/L), artificial tears (0.8±1.0), and NSAIDs (0.04±0.08). Percentage of medications in the hyperosmolar category was highest in the NSAI group (75%), followed by antihistaminics (43%), corticosteroids (20%), and antiglaucoma drugs (19%). Nearly all of the artificial tear formulations were in the hypoosmolar (71%) or isoosmolar (21%) categories.Conclusion:Approximately 40% of glaucoma medications and approximately 60% of corticosteroid and antihistaminic medications had a phosphate concentration higher than the physiologic tear phosphate level (1.45 mmol/L).

Objectives:To investigate the role of oxidative stress on pseudoexfoliation formation and progression from pseudoexfoliation syndrome (XFS) to pseudoexfoliation glaucoma (XFG).Materials and Methods:This study investigated oxidative stress biomarkers in blood samples from 58 patients with XFG, 47 patients with XFS, and 134 healthy age- and sex-matched controls.Results:The highest serum malondialdehyde (MDA) levels were measured in XFG patients (p

Objectives:To investigate the relationship between pseudoexfoliation syndrome (PES) and the use of antidepressant medications.Materials and Methods:This population-based, cross-sectional study included 2,017 of 2,356 invited subjects who were randomly selected from the Turkish Statistical Institute database (www.turksat.gov.tr/) as part of an epidemiologic study which specifically aimed to detect the prevalence of PES in the province of Eskişehir. During the examination, a detailed questionnaire was administered to determine physician-diagnosed systemic disease and drug use.Results:Eight of the 2,017 participants in the study were excluded for various reasons (2 with posterior synechiae, 2 with corneal opacity, 1 uncooperative patient, 1 eviscerated patient, 1 with active adenoviral keratoconjunctivitis, and 1 with a history of angle closure). PES was detected in 100 (5%) of the 2,009 patients whose data were analyzed. The percentage of subjects with concurrent antidepressant drug use in the PES and non-PES non-glaucoma groups were 4.1% (n=3) and 1.1% (n=21), respectively. The difference between the two groups was statistically significant (p=0.024). In addition, the use of medications for hypertension (p

Keratoconus had traditionally been considered a rare disease at a time when the imaging technology was inept in detecting subtle manifestations, resulting in more severe disease at presentation. The increased demand for refractive surgery in recent years also made it essential to more effectively detect keratoconus before attempting any ablative procedure. Consequently, the armamentarium of tools that can be used to diagnose and treat keratoconus has significantly expanded. The advances in imaging technology have allowed clinicians and researchers alike to visualize the cornea layer by layer looking for any early changes that might be indicative of keratoconus. In addition to the conventional geometrical evaluation, efforts are also underway to enable spatially resolved corneal biomechanical evaluation. Artificial intelligence has been exploited in a multitude of ways to enhance diagnostic efficiency and to guide treatment. As for treatment, corneal cross-linking treatment remains the mainstay preventive approach, yet the current main focus of research is on increasing oxygen availability and developing new strategies to improve riboflavin permeability during the procedure. Some new combined protocols are being proposed to simultaneously halt keratoconus progression and correct refractive error. Bowman layer transplantation and additive keratoplasty are newly emerging alternatives to conventional keratoplasty techniques that are used in keratoconus surgery. Advances in tissue engineering and regenerative therapy might bring new perspectives for treatment at the cellular level and hence obviate the need for invasive surgeries. In this review, we describe the advances in the diagnosis and treatment of keratoconus primarily focusing on newly emerging approaches and strategies.

Objectives: To investigate the three single nucleotide polymorphisms (SNPs) (rs3825942, rs1048661, and rs2165241) of the LOXL1 gene in pseudoexfoliation syndrome (XFS) and pseudoexfoliation glucoma (XFG) in the Turkish population. Materials and Methods: DNA was obtained from blood samples of 48 XFS, 58 XFG, and 171 control subjects. Three LOXL1 SNPs (rs3825942, rs1048661, rs2165241) were investigated with real time PCR, a probe-based genotyping method, and melting curve analysis. Results: All three SNPs of LOXL1 were significantly associated with XFS (rs3825942 p=3.54x10-6, odds ratio [OR]=∞; rs1048661 p=0.008, OR=2.18; rs2165241 p=8.69x10-9, OR=4.30) and XFG (rs3825942 p=3.41x10-7, OR=∞; rs1048661 p=1.75x10-5, OR=3.78; rs2165241 p=3.85x10-11 OR=4.90). No significant differences were observed between the XFS and XFG groups for any of the SNPs. The GG genotype of rs3825942 was more valuable for distinguishing pseudoexfoliative cases from healthy individuals. The homozygous TT genotype of rs2165241 was associated with 6-fold increased XFS risk (p=8.15x10-8, OR=6.32) and 7-fold increased XFG risk (p=1.45x10-10 OR=7.95). The GGT haplotype consisting of all three risk alleles was associated with a 7.45-fold higher risk of XFS/XFG (p=8.65x10-14, OR=7.45). Presence of T allele of rs2165241 conferred 3 times higher risk for men than women (p=6.78x10-5, OR=3.202). Conclusion: LOXL1 SNPs are associated with increased risk for pseudoexfoliation in the Turkish population. T allele of rs2165241 was found to be the most important characterized risk factor for our cohort. All SNP distributions were similar to other European and American populations.

A 21-year-old male patient with no history of systemic disease or drug use presented to our clinic with redness and pain in the right eye. Best corrected visual acuity was 20/20 in both eyes. Inflamed pinguecula was observed on slit-lamp examination and the patient was prescribed ophthalmic nepafenac eye drops. After instilling the drops that day and the next day, the patient presented again due to pruritus and rash. Upon consultation with the dermatology department, the patient was diagnosed with drug-induced allergic urticaria and the nepafenac drops were discontinued. Although urticaria has been reported as a side effect after systemic non-steroidal anti-inflammatory drug (NSAID) use, such a reaction has not been reported with an ophthalmic NSAID and ours is the first reported case of urticaria following ophthalmic nepafenac use. This unique case highlights the fact that ophthalmologists must also keep urticaria in mind as a potential side effect when prescribing this drug.

Objectives: The present study was conducted to develop an instrument for measuring adults’ glaucoma knowledge levels and to establish the instrument’s validity and reliability. Materials and Methods: The study group consisted of 811 persons aged 40-80 years who presented to primary health care institutions and did not have a glaucoma diagnosis. A 27-item questionnaire measuring level of glaucoma knowledge was created by the study team. Following expert consultation, it was structurally evaluated. The difficulty index and discrimination index were calculated for each item. Factor analysis was used to determine construct validity, Cronbach’s alpha internal consistency coefficient and item-total correlations were calculated to determine reliability. Confirmatory factor analysis was used to assess the extent to which the factor structure of the scale fit. We analysed correlation with the National Eye Health Education Program (NEHEP) Eye-Q scale in order to evaluate the validity of the scale. Results: The final glaucoma knowledge level questionnaire comprised 10 items in one dimension. The discrimination index and difficulty index ranged between 0.28 to 0.65 and 33 to 61%, respectively. According to factor analysis, the Kaiser-Meyer-Olkin score was 0.760 and Bartlett’s test indicated p

Vasoproliferative retinal tumor (VPRT) is a rare, benign lesion with a variable clinical course depending on the individual. Favorable outcomes are obtained with early diagnosis and treatment of patients with VPRT. In this case report, we present a case of concomitant VPRT and multiple sclerosis along with our management of uveitis and secondary glaucoma that presumably developed following cryotherapy for VPRT.

Purpose: To compare the intraocular pressure (IOP) measurements obtained with the rebound tonometry (RT), dynamic contour tonometry (DCT) and Goldmann applanation tonometry (GAT) in keratoconic corneas and to investigate the effects of central corneal thickness (CCT) and corneal radius of curvature (CR) on IOP measurements. Methods: Sixty-three eyes of 63 keratoconus patients were enrolled in this cross-sectional study. IOP was measured on each subject always in the same order, ICare RT-Pascal DCT-GAT, after a minimum interval of 10 min between measurements. CCT and CR were measured using a rotating Scheimpflug camera before the IOP measurements in all subjects. One way repeated measures ANOVA and Pearson correlation coefficient analysis was used for the statistical assessment. Results: Mean IOP for all enrolled eyes was 11.72 ± 2.59 mm Hg for GAT, 9.34 ± 3.29 mm Hg for RT, and 15.42 ± 3.31 mm Hg for DCT. There were statistically significant differences among the three tonometers; GAT and RT (P

Management of Graves’ orbitopathy remains an important therapeutic challenge. Current therapeutic modalities are unsatisfactory in about one third of patients. Rituximab is a monoclonal antibody against CD20 antigen that is expressed in mature and immature B cells. Early experience with rituximab suggests that it is a promising alternative therapy for Graves’ orbitopathy. Here we report a case of a 49-year-old woman with Graves’ orbitopathy and psoriasis. The patient received 2 infusions of 1 g rituximab 2 weeks apart. Although there was improvement in inflammatory signs of the disease, proptosis did not change after the treatment.

Objectives: To evaluate the optic disc area and cup area in a normal population over 40 years of age. Materials and Methods: This prospective study was performed in Eskişehir. Fundus photographs were obtained using a nonmydriatic fundus camera. Planimetric measurements of the optic disc and cup area were performed with VK-2 digital imaging software. Optic nerve parameters were then compared between sex and age groups. Results: A total of 3,038 subjects were evaluated. Mean age was 56.6±10.4 years (range 40-91 years). The median disc area of the subjects was 2.87 (2.53-3.23) mm2 in the right eyes and 2.89 (2.55-3.25) mm2 in the left eyes (p0.05). Conclusion: We report the normal distribution of disc area and cup area measurements and their association with age and sex.

Ligneous conjunctivitis is a rare form of chronic pseudomembranous conjunctivitis characterized by membranes on the conjunctiva. The disease usually affects children but can occur at older age as well. Similar lesions may develop on other mucous membranes of the body if the disease is associated with systemic plasminogen deficiency. We report our 6 cases with ligneous conjunctivitis and discuss them in terms of diagnosis, treatment, and prognosis. (Turk J Ophthalmol 2013; 43: 458-63)

Objectives: To examine the patients with nasal trauma by nasal xray and computerized tomography (CT) and compare two methods each other.Methods: The patients that admitted to emergency department due to nasal trauma between April 2004 and March 2005 and were treated with closed nasal reduction were examined. Twenty patients who first had nasal x-ray and then nasal CT were included in the study.Results: Fracture of the nasal bone was detected in only 9 of these patients (45%) by nasal x-ray, however the fracture line was apparent in all of them by nasal CT.Conclusion: It is concluded that nasal x-ray is unsuccessful to demonstrate nasal fractures. However CT is objective method to demonstrate the nasal fracture.

Abstract Background Congenital NBCe1A deficiency with the SLC4A4 mutation causes severe proximal renal tubular acidosis, which often comprises extrarenal symptoms, such as intellectual disability and developmental delay, glaucoma, cataract and band keratopathy. To date, almost all mutations have been found to be homozygous mutations located in exons. Case presentation We performed direct nucleotide sequencing analysis of exons and exon–intron boundary regions of the SLC4A4 in a patient presenting with severe renal proximal tubule acidosis, glaucoma and intellectual disability and her parents without these signs. The examination revealed compound heterozygous mutations in exon–intron boundary regions, c.1076 + 3A > C and c.1772 − 2A > T, neither of which have been reported previously. While the former mutation was found in the mother, the latter was found in the father. The transcript of the SLC4A4 gene was almost undetectable, and the patient was also diagnosed with Turner’s syndrome. Conclusions We identified two novel SLC4A4 mutations, c.1076 + 3A > C and c.1772 − 2A > T. When presented in a compound heterozygous state, these mutations caused a phenotype of severe renal proximal tubular acidosis along with glaucoma and mental retardation. This is the first report of congenital proximal renal tubular acidosis carrying compound heterozygous SLC4A4 mutations in exon–intron boundary regions. We suggest that an mRNA surveillance mechanism, nonsense-mediated RNA decay, following aberrant splicing was the reason that the SLC4A4 transcript was almost undetectable in the proband.

AIM: To study the effect of vasoactive intestinal peptide (VIP) on wound healing in experimental alkali burns of the cornea. METHODS: Twenty-seven albino rabbits, weighing 3.2±0.75 kg were used. Alkali burns were induced on corneas by applying 10 mm Whatman paper No:50 soaked in 1 mol/L NaOH. They have further classified into 5 groups as follows: 1) control group given no treatment (n=5); 2) VIP given subconjunctivally (n=6); 3) VIP injected into anterior chamber (n=6); 4) NaCl 0.9% given subconjunctivally (n=5); 5) NaCl 0.9% given into the anterior chamber (n=5). All treatment protocols except control group were followed by topical eye drops composed of VIP at two hourly intervals for one week from 8 a.m. to 6 p.m. RESULTS: VIP treated groups of rabbits with alkali burns were found to have better wound healing findings histo-pathologically when compared to those of control group who have received no treatment on day 30. No differences were observed between groups in respect to degree of polymorphonuclear leukocytes (PMNL) infiltration and degree of loss of amorphous substrate on day 15. However, PMNL infiltration and degree of loss of amorphous substrate were lower in Groups 2 and 3 when compared to that of control group on day 30 (P(0.05). CONCLUSION: We have shown that VIP has positive effects on alkali induced corneal burns. VIP may inhibit PMNL migration to cornea through an immunomodulatory effect. Inhibition of PMNL migration might reduce the release of collagenases and this might prevent the extracellular amorphous substance loss.

AIM: To compare the intraocular pressure (IOP) measurements obtained with the rebound tonometry (RT), dynamic contour tonometry (DCT) and Goldmann applanation tonometry (GAT) in normal and glaucomatous eyes and investigate the effects of central corneal thickness (CCT) and corneal curvature (CC) on IOP measurements. METHODS: One hundred and twenty-four eyes of 124 subjects were enrolled in this cross-sectional study. Fifty-six of participants were healthy individuals and 68 of them were glaucomatous patients. IOP was measured on each subject always in the same order, ICare RT-Pascal DCT-GAT, after a minimum interval of 10min between measurements. CCT and CC were measured using a rotating Scheimpflug camera before the IOP measurements in all subjects. One way repeated measures ANOVA, Pearson correlation coefficient and regression analysis, and Bland-Altman analysis was used for the statistical assessment. RESULTS: Mean IOP for all enrolled eyes was 16.00±3.80 mm Hg for GAT, 16.99±4.91 mm Hg for RT, and 20.40±4.44 mm Hg for DCT. Mean differences between GAT and RT was -1.75±3.41 mm Hg in normal (P

Introduction: There are many adverse effects that have been described for isotretinoin. To the best of our knowledge, this is the first report of a possible association of oral isotretinoin intake with autoimmune thyroiditis and ocular myasthenia gravis (OMG). Case Presentation: A 19-year-old Caucasian male, who had used oral isotretinoin for severe acne disease for the previous six months, was referred to our clinic. He had a three-week history of diplopia and variable bilateral ptosis. Physical examination showed moderate periorbital edema and limitations of up- and down-gaze in the left eye. Laboratory findings and thyroid ultrasound were consistent with autoimmune thyroiditis. Antithyroid therapy did not relieve the clinical symptoms. Concomitant OMG was suspected. Variable ptosis and a positive response to oral prednisolone of 40 mg/day and pyridostigmine of 360 mg/day supported the diagnosis of concomitant autoimmune thyroiditis and OMG. Conclusion: Autoimmune disorders may be triggered by oral isotretinoin treatment. Clinicians prescribing isotretinoin should be aware of the possible association between isotretinoin intake and concomitant autoimmune thyroiditis and OMG.

Introduction. To report a case of a conjunctival metastasis as the initial manifestation of small cell lung cancer. Methods. Observational case report. Results. A 50-year-old man without known systemic disease developed a conjunctival mass in his right eye. He underwent incisional biopsy of the tumor and systemic evaluation. Histopathologically, the conjunctival mass was a metastatic small cell carcinoma. Further evaluation revealed a primary small cell lung carcinoma with metastasis to liver and bones. The primary and metastatic tumors were treated with chemotherapy. Conclusion. Conjunctival metastasis may be the initial manifestation of lung cancer. It should be considered in the differential diagnosis of a deep conjunctival mass.

Purpose. To report the incidence and risk factors for postkeratoplasty glaucoma (PKG), as well as its management. Subjects and Methods. 122 eyes, (43% with pseudophakic and aphakic bullous keratopathy (PABK)) which underwent penetrating keratoplasty (PK), were analyzed. Results. The rate of PKG development was 34% within 39 months of follow-up. PABK, corneal perforations, keratitis, and previous high intraocular pressure (PHIOP) were high risk factors for PKG. Glaucoma was controlled medically in 62% of PKG cases. Surgery (Ex-PRESS shunt in 63%) and diode laser cyclophotocoagulation were applied in others (38%). The rate of postoperative complications and graft survival was similar in eyes with and without PKG. Conclusion. PHIOP, preoperative diagnoses other than keratoconus, and corneal dystrophies were highly associated with PKG. Ex-PRESS shunts were effective in refractory PKG. If glaucoma is controlled, it is possible to obtain similar rates of graft survival and postoperative complications in eyes with and without PKG.