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Background: Axitinib is a selective inhibitor of vascular endothelial growth factor receptors and is used in the treatment of many malignancies. Herein, we reported a rare case with axitinib-induced retinal changesand associated toxicity., Case Presentation: A forty-five-year-old female presented with blurred vision who had been taking 7 mg of Axitinib bid for 5 months. Initial Best Corrected Visual Acuity (BCVA) was 20/32 at the right and counting fingers at the left eye. Funduscopic examination revealed bilaterally widespread intraretinal hemorrhages, cotton-wool spots, and hard exudates with a star-like appearance at the macula. The optical coherence tomography revealed central macular edema. There was hyperreflective edema in the inner layers, exudates in the middle retinal layers, and subfoveal subretinal fluid. Fundus fluorescein angiography revealed localized ischaemic findings in the early phase and multifocal perivascular ink-blot fluorescein leakage in the middle and late phases. Axitinib treatment was discontinued immediately, and at the third month of follow-up, the macular edema and fundus findings improved with a final BCVA of 20/20 at the right and 20/32 at the left eye., Conclusion: Considering the ocular side effects of the patients receiving axitinib is crucial to prevent any potentially persistent visual loss., (Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.net.)

Aims: Previous structural, vascular density, and perfusion studies have mostly comprised type 1 and type 2 diabetes, even in the absence of retinopathy. The current study aimed to compare macular vessel density (VD) measurements between maturity-onset diabetes of the young (MODY) patients and controls., Methods: The macular VD of superficial, deep retina, and choriocapillaris (CC), and central macular thickness (CMT), foveal avascular zone (FAZ), FAZ perimetry, VD of the total retina at 300 µm around the FAZ (FD), and acirculatory index (AI) measurements were taken and analyzed via OCT-A (RTVue XR 100-2 Avanti, AngioVue) and were compared between molecularly confirmed MODY (glucokinase (GCK) variants) patients and healthy controls., Results: Twenty-five MODY patients and 30 healthy controls were included in the study. The mean plasma hemoglobin A1c level in the MODY group was 6.39 ± 0.38. The mean age was 13.8 ± 2.1 in the MODY group and was 12.6 ± 2.5 years among controls. There was no significant difference in terms of the age, superficial and deep retinal VD, FAZ, FAZ perimetry, CMT, FD, or AI between the groups. Compared to the healthy controls, a slight but significant increase in the CC-VD was detected in the MODY group, but only in the parafoveal and perifoveal regions (p = 0.034, p = 0.009)., Conclusion: The significant CC-VD increase in the MODY group might be associated with hyperglycemia and/or relatively poor and vulnerable peripheral vascular CC perfusion compared to the central. Previous thickness and VD results of childhood or adolescent diabetes were distributed in a wider range, suggesting that various factors, including some not yet clearly defined, may affect the choroidal vasculature independently of glycemia or as a contributing factor., (© 2024. Springer-Verlag Italia S.r.l., part of Springer Nature.)

Background: Immune thrombocytopenic purpura (ITP) is a rare auto-antibody mediated disease of isolated thrombocytopenia (<100,000/μL) with normal haemoglobin levels and leukocyte counts. Only a small number of ITP cases have been reported with accompanying ophthalmological findings. Herein, we report an ITP case with demonstrative retinal haemorrhages., Case Presentation: A fifty-five-year-old woman with a known history of type 2 diabetes mellitus was referred to our clinic with blurred vision. After detailed anamnesis and clinical assessment, she was diagnosed as primary ITP in haematology department, and systemic steroid (1.5mg/kg) therapy was initiated. During her follow-up, a concomitant peripheral facial paralysis (PFP) emerged. In the course of follow-up, her platelet counts increased gradually, the retinal haemorrhages regressed partially, and the PFP recovered completely., Conclusion: ITP is a rare haematologic disease that sometimes manifests with additional systemic involvements, and this disease should be remembered in the differential diagnosis of unusual retinal haemorrhages, which might be the only presenting feature., (Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.net.)

To evaluate the optical coherence tomography angiography (OCT-A) findings in patients with systemic lupus erythematosus (SLE). Twenty-eight eyes of 28 patients with SLE and 27 eyes of 27 age and sex matched healthy controls were enrolled in this cross-sectional study. The vessel densities in the macula and optic disc were evaluated using the OCT-A (Optovue, Inc., Freemont, CA). Foveal retinal thickness, retinal vascular density in superficial capillary plexus (SCP), deep capillary plexus, and choriocapillaris, foveal avascular zone (FAZ), acircularity index, foveal vessel density (FD), and non-flow area in the superficial retina, the capillary and all-vessels density in the peripapillary area and the inside-disc area were automatically measured using Angiovue software of OCT-A and compared between the groups. The foveal, parafoveal and perifoveal retinal vessel densities in the superficial and deep capillary plexus and choriocapillaris were similar between groups. FAZ area, FAZ perimetry, acirculatory index, FD and non-flow area did not show a statistically significant difference. The vessel density in the inside disc area was significantly lower in patients with SLE (46.3 ± 3.8%) compared to the control group (49.1 ± 4.8%) (P = .02). Our results demonstrate significant decrement in vessel density in the inside-disc area in patients with SLE. The lower vessel density measurement in the inside-disc area might be associated with early neurologic vascular impairment in SLE. Further studies are required to determine the clinical relevance of this finding., Competing Interests: The authors have no funding and conflicts of interest to disclose., (Copyright © 2023 the Author(s). Published by Wolters Kluwer Health, Inc.)

The aim of this study was to compare the outcomes of diabetic macular edema (DME) treated with aflibercept (AFB) or ranibizumab (RNB) only, and after switching from RNB to AFB. This was a retrospective, real-world, multicenter (7 cities) 24 month study. Overall, 212 eyes in the AFB group, 461 in the RNB group, and 141 in the RNB to AFB group were included. The primary endpoints were differences in visual acuity (VA) and central macular thickness (CMT) from baseline to the final visit. The secondary outcomes were the percentage of eyes that achieved ≥10 letters gain and ≥10 letters loss in vision at month 12 and 24, and the percentage of eyes that achieved a thinning of ≥20% in CMT at month 3 and month 6. The results showed that VA did not significantly differ at baseline (AFB: 0.62 ± 0.38, RNB: 0.61 ± 0.36, RNB to AFB: 0.61 ± 0.38), at checkpoints, or at the final visit (AFB: 0.46 ± 0.38, RNB: 0.5 ± 0.37, RNB to AFB: 0.53 ± 0.36) ( p > 0.05). Though the mean CMT at baseline was significantly thicker in the RNB to AFB group (479 ± 129.6 μm) when compared to the AFB (450.5 ± 122.6 μm) and RNB (442 ± 116 μm) groups ( p < 0.01), similar measurements were obtained after 12 months. The percentages of eyes that gained or lost ≥10 letters in the AFB, RNB, and RNB to AFB groups at year 1 and 2 were similar, as was the percentages of eyes that demonstrated ≥20% CMT thinning at month 3 and 6. Our study showed similar visual improvements in non-switchers (AFB and RNB groups) and switchers (RNB to AFB group) through 2 years follow-up, however, AFB patients required fewer injections, visits, or need for additional treatments.

Purpose: This study aimed to report the visual and anatomical outcomes of intravitreal anti-VEGF treatment for diabetic macular edema (DME) in a real-world clinical setting from Turkey over 36 months., Methods: This is a retrospective, multicenter (7 sites) study. The medical records of 1072 eyes (both previously treated and naive eyes) of 706 consecutive patients with visual impairment due to center-involving DME treated with intravitreal anti-VEGF injections between April 2007 and February 2017 were reviewed. The eyes were divided into mutually exclusive three groups based on the duration of follow-up (12, 24, or 36 months). Primary outcome measures were changes in visual acuity (VA) and central macular thickness (CMT) from baseline to final visit in each cohort, frequency of visits and intravitreal anti-VEGF injections. As secondary endpoints, VA outcomes were assessed in subgroups stratified by baseline VA [<70 ETDRS letters and ≥70 ETDRS letters] and loading dose status of anti-VEGF injections., Results: VA increased by a mean of 8.2 letters (12-month cohort, p < 0.001), 5.3 letters (24-month cohort, p < 0.001), and 4.4 letters (36-month cohort, p = 0.017) at final visits. The eyes with <70 VA letters achieved more significant VA improvement at final visits in all cohorts compared with eyes with >70 VA letters (p < 0.001). The mean decreases in CMT from baseline to last visits at 12-, 24-, and 36- month cohorts were -100.5 µm, -107.7 µm, and -114.3 µm, respectively (p < 0.001). The mean number of injections given were 4.6, 2.3, and 1.8 during years 1 to 3, respectively. Patients who received loading dose showed greater VA gains than those who did not in all follow-up cohorts., Conclusion: Our study revealed that anti-VEGF treatment improved VA and CMT over a follow-up of 36 months. Although these real-life VA outcomes following anti-VEGF therapy for DME were similar to other real-life studies, they were inferior to those noted in randomized controlled trials, mainly due to undertreatment., (© 2022. The Author(s), under exclusive licence to Springer Nature B.V.)

Introduction: Iodine deficiency is a leading cause of preventable physical and mental retardation. Potassium iodate is used for iodine supplementation to prevent iodine deficiency. We herein report a case of toxic retinopathy following intentional ingestion of potassium iodine., Case Presentation: A 41-year-old male presented with a 5-day history of blurred vision in both eyes. His visual acuity (VA) was hand motion and his pupillary reactions were sluggish bilaterally. The fundus examination revealed bilaterally diffuse retinal pigment epithelium atrophy and secondary pigmentary changes at the posterior pole, but his peripheral fundus was relatively spared. Choroidal thinning, punctate hyperreflective dots along the retinal pigment epithelium layer, and outer retinal atrophy were the optical coherence tomography findings, which were consistent with widespread areas of retinal pigment epithelium window defects observed on fundus fluorescein angiography. The visual evoked potential test showed no response in the right eye and revealed a delay in the latency and a decrease in the amplitude of the P100 wave in the left eye. Wave b responses of the photoreceptors could not be observed in the patient's electroretinogram. After a vitamin supplementation protocol consistent with the literature, at the 4-month follow-up visit his visual acuity had improved to 0.3 in the right eye and counting fingers in the left eye., Conclusion: Potassium iodate toxicity is a cause of serious retinal and choroidal damage and results in severe vision loss. Hydration, hemodialysis, and antioxidants can be helpful to minimize the complications.

Purposes: To evaluate the optical coherence tomography angiography findings in patients with Behçet disease with and without ocular involvement., Methods: A total of 40 patients with Behçet disease and 30 healthy controls were enrolled in the study. Retinal vessel density in the superficial capillary plexus and deep capillary plexus, foveal avascular zone area and perimeter, acirculatory index, foveal density, and nonflow area in the superficial retina were automatically measured using the optical coherence tomography angiography software AngioVue and compared between the groups., Results: The mean parafoveal and perifoveal vessel densities in the superficial capillary plexus and deep capillary plexus and foveal density were significantly lower in the eyes with Behçet uveitis compared to the eyes without Behçet uveitis and eyes of the healthy controls. In the eyes with Behçet uveitis, logMAR visual acuity showed a moderate correlation with parafoveal and perifoveal vessel densities and foveal density (r=-0.43, p=0.006; r=-0.62, p<0.001; r=-0.42, p=0.008; respectively)., Conclusion: Behçet disease with posterior uveitis was associated with significant perifoveal and parafoveal vascular decrements in the superficial and deep retina.

Background and Purpose: Randomised-controlled clinical trials (the ANCHOR and MARINA) examined the intravitreal anti-vascular endothelial growth factor (anti-VEGF) efficacy for eyes having fluorescein angiographic classic and occult (OCC) neovascular lesions. No significant difference in the treatment response between the lesion types was observed. Fundus fluorescein angiography and optical coherence tomography (OCT) are complementary devices that provide information about neovascular age-related macular degeneration (n-AMD). The aim of this retrospective study was to compare the clinical aspects of fluorescein angiographic characteristics in predominantly classic (PDC) and OCC subtypes of n-AMD treated with intravitreal ranibizumab., Methods: Treatment-naive fluorescein angiographic OCC-n-AMD and PDC-n-AMD patients, who received monthly intravitreal ranibizumab for 3 months after baseline, and were followed-up with pro re nata injections between March 2013 and February 2018, were included. Means of the visual acuity (VA), central macular thickness (CMT), and intravitreal injection and visit numbers of the groups were compared throughout 24 months., Results: We included 41 eyes of PDC-n-AMD patients and 36 eyes of OCC-n-AMD patients. The mean ages were 74.5 ± 10.6 and 71.9 ± 9.4, respectively. The baseline, and 3-, 6-, 12-, 18-, and 24-month VA results of the OCC group were significantly better than those in the PDC. However, VA gain in the PDC group at 3, 6, and 12 months was significantly higher than that in the OCC group. The mean of baseline CMT of the PDC (353 ± 118 µm) was significantly higher than that in the OCC group (293 ± 64 µm). No significant differences in terms of the number of visits or injections, or CMT change from the baseline values between groups were observed., Conclusion: The OCC-n-AMD patients had better baseline and follow-up VA and CMT means than the PDC-n-AMD patients. However, the PDC-n-AMD patients are expected to benefit more than the OCC-n-AMD patients in terms of VA gains., Competing Interests: Conflict of interest statement: The authors declared no potential conflicts of interest with respect to the research, authorship and/or publication of this article., (© The Author(s), 2021.)

Background: Vogt-Koyanagi-Harada Syndrome is rare in childhood and is usually seen between the 2nd and 5th decades. We present a 15-year-old girl with findings of incomplete Vogt-Koyanagi-Harada Syndrome., Case: In the first visit, anterior chamber inflammation, vitritis, serous retinal detachment and papillitis were observed in her both eyes. She also had neurological symptoms such as a headache. During the systemic treatment period, some of the side effects related to steroids emerged. Additionally, the symptoms and findings of the disease relapsed while the steroid dose was reduced., Conclusion: Early diagnosis and selection of an individualized appropriate treatment provided good clinical and visual results without any serious complications in our case.

Objective : To determine the clinical relevance and frequency of BEST1 and PRPH2 mutations in a clinically diagnosed adult-onset vitelliform macular dystrophy (AVMD) group with Caucasian ethnicity. Methods : The study comprised 24 patients who had been diagnosed with AVMD via indirect fundus ophthalmoscopy and presented with a dome-shaped appearance between the retinal pigment epithelium and photoreceptors on their spectral-domain optical coherence tomography. They had lesion hyper- autofluorescence on their fundus autofluorescence images and were also investigated for BEST1 and PRPH2 mutations for a probable molecular aetiology. Results : No pathogenic or likely pathogenic mutation was detected in the BEST1 and PRPH2 genes of any of the clinically diagnosed AVDM patients. A heterozygous NM&#95;000322.5:c.938C>T (p.Pro313Leu) variant of the PRPH2 gene was detected in 2 non-consanguineous patients. According to current guidelines, this variant was classified as a 'variant of uncertain significance'. Conclusion : In conclusion, AVMD is a genotypic and phenotypic heterogeneous disease. The genetic aetiology could not be explained by sequencing BEST1 and PRPH2 genes in the AVMD patients; however, the variant of PRPH2 could be a cause of predisposition relevant to the phenotype.

Objectives: To evaluate the effect of proptosis on choroidal thickness in patients with Graves' ophthalmopathy., Materials and Methods: Twenty-five eyes of 25 Graves' patients with proptosis, 25 eyes of 25 Graves' patients without proptosis, and 25 eyes of 25 healthy individuals were included in this prospective study. The subfoveal choroidal thickness and choroidal thicknesses at 6 points from the fovea at 500 μm intervals were measured by Cirrus HD-OCT. All measurements were compared among the proptosis, non-proptosis, and control groups and the active, inactive, and control groups., Results: The mean subfoveal choroidal thickness in the proptosis group was 289.7±68.5 μm, 322.5±55.8 μm in the non-proptosis group, and 316.1±63.0 μm in the control group. The mean nasal choroidal thickness was 260.5±63.5 μm in the proptosis group, 293.9±57.9 μm in the non-proptosis group, and 279.5±63.1 μm in the control group. The mean temporal choroidal thickness was 261.8±60.9 μm in the proptosis group, 289.0±51.8 μm in the non-proptosis group, and 287.8±56.2 μm in the control group. Mean choroidal thickness was 264.7±58.5 μm in the proptosis group, 296.2±47.5 μm in the non-proptosis group, and 288.3±55.1 μm in the control group. There were no statistically significant differences among the groups with respect to choroidal thickness measurements (p>0.05)., Conclusion: No significant difference in choroidal thickness was detected between Graves' patients with and without proptosis and the controls. There was no effect of clinical activation on choroidal thickness.

Objectives: The aim of this study was to evaluate the macular choroidal thickness (CT) in patients with ocular hypertension (OHT) using spectral domain optical coherence tomography (SD-OCT) and compare the results with healthy individuals., Methods: Thirty eyes of 30 patients newly diagnosed with OHT and 24 eyes of 24 healthy controls were included in this cross-sectional study. After a detailed ophthalmological examination, macular CT was measured with enhanced depth imaging optical coherence tomography (EDI-OCT) (Cirrus HD-OCT, Carl Zeiss Meditec AG, Jena, Germany) at the fovea and at positions 500 μ, 1000 μ, 1500 μ nasal and temporal to the fovea. The Mann-Whitney U test was used to compare the CT measurements between groups. The correlation between the mean deviation, pattern standard deviation, and retinal nerve fiber layer thickness (RNFL) and CT was evaluated with the Spearman correlation coefficient. Statistical significance was accepted as p<0.05., Results: The mean CT in the OHT group was significantly thinner than that of the controls at locations 1000 μ (250.13±69.53μ vs 275.92±47.34μ; p=0.02) and 1500μ (236.03±65.44μ vs 265.46±47.56μ; p=0.009) temporal to the fovea. The CT at the other measurement points was also thinner in eyes with OHT, but the difference failed to reach statistical significance. A moderately negative correlation was detected between the mean deviation and CT at locations 1000μ (r=-0.42; p=0.03) and 1500μ (r=-0.44; p=0.02) temporal to the fovea There was a moderate correlation between the average RNFL thickness and CT at locations 500μ (r=0.44; p=0.03), 1000μ (r=0.42; p=0.04) and 1500μ (r=0.56; p=0.005) temporal to the fovea., Conclusion: In the present study, the macular CT was thinner in patients with OHT and this thinning was statistically significant at the temporal macula. A longitudinal, prospective study involving multiple EDI-OCT measurements is required to further understand the relationship., Competing Interests: Conflict of Interest: None declared., (Copyright: © 2019 by Beyoglu Eye Training and Research Hospital.)

Context: To evaluate the necessity of ocular screening in Type 1 diabetes mellitus (DM)., Aims: This study aims to investigate the diabetes-related ocular changes according to the glycosylated hemoglobin (HbA1c) level and duration of diabetes in children and compare the results with nondiabetic healthy children., Settings and Design: Observational cross-sectional study designed by ophthalmology and pediatric endocrinology clinics., Subjects and Methods: Forty-two children with Type 1 DM, 42 healthy gender- and age-matched children as controls were enrolled. All patients underwent ophthalmic and physical examination, with a review of medical history and current medication. HbA1c level, best corrected visual acuity, intraocular pressure (IOP), central corneal thickness (CCT), tear break-up time (BUT), Schirmer test, dilated fundus examination findings, central retinal thickness (CRT), and total macular volume (TMV) measurements were noted., Statistical Analysis: Descriptive statistics, Student's t-test, Mann-Whitney U-test, Chi-square test for comparison of the group parameters and correlation analyses (Spearman analysis) were performed with SPSS statistical software 17.0 (SPSS Inc., Chicago, IL, USA)., Results: Type 1 DM group exhibited significantly reduced Schirmer test, increased IOP and decreased retinal thickness relative to the age-matched control group (P < 0.05) but no statistically significant difference was found for the BUT (P = 0.182) and for the CCT (P = 0.495). The correlations between the age, duration, HbA1c and IOP, BUT, Schirmer test, TMV, CRT measurements did not reach statistical significance., Conclusions: More frequent screening may be needed for complications, including neuropathy-related dry eye syndrome, IOP changes, and diabetic retinopathy in children with Type 1 DM., Competing Interests: There are no conflicts of interest.

Aim: To investigate the effect of short-term prophylactic dose of a low molecular weight heparin (LMWH) drug on the bone healing process in an animal model simulating the osteotomy obtained in dacryocystorhinostomy., Methods: Forty male Wistar albino rats were divided into 2 groups. Subcutaneous injections of enoxaparin 1 mg/kg (enoxaparin-treated group) and saline solution (control group) were performed once daily for 4d, beginning on the first preoperative day. The osteotomy was created at the femoral diaphysis in all animals by using a Kirschner wire. Each group was further divided into 2 subgroups depending on the timing of the second operation, 14 or 21d following initial osteotomy. Patent osteotomy area on the second and the third weeks in each group were calculated by using a computer software on digital micrographs., Results: The patent osteotomy areas at the second and the third weeks were significantly larger in the enoxaparin-treated group than those of the control group (P<0.001 for each time-period). In the control group, the patent osteotomy area at the third week of healing was significantly smaller than that of the second week (P=0.003), whereas there was no significant difference between these two measurements in the enoxaparin-treated group (P=0.185)., Conclusion: Short-term administration of enoxaparin resultes in a significant alteration in bone healing at 14 and 21d after injury. LMWHs can be regarded as promising alternative adjuvants in dacryocystorhinostomy after being evaluated with further clinical and animal studies.

Objective: Presence of diabetic retinopathy (DR) may be used as an early marker of atherosclerosis in type 2 diabetes mellitus (DM) patients. This study aimed to investigate the relationship between the presence of DR and carotid intima-media thickness (CIMT), which is an indicator of early atherosclerosis in patients with type 2 DM., Methods: Thirty DM patients with retinopathy (DR group), 28 DM patients without retinopathy (non-DR group), and 27 healthy controls (control group) were included in the study. CIMT was assessed using a high-resolution B-mode ultrasonography device., Results: Mean CIMT was found to be 0.9±0.17 mm in the DR group, 0.8±0.16 mm in the non-DR group, and 0.7±0.13 mm in the control group. CIMT was found to be statistically significantly higher in the DR group compared to the other 2 groups (p<0.001). When multivariate analysis was performed, presence of DR still remained as an independent risk factor for increased CIMT values., Conclusion: Presence of DR in type 2 DM patients is an independent risk factor in terms of increased CIMT, which is considered to be a finding of subclinical atherosclerosis. Therefore, we believe that type 2 DM patients with retinopathy should be closely followed in terms of cardiovascular events.

Aim: The aim of this study was to evaluate the diagnostic performance of strain ratio elastography in the assessment of retrobulbar orbital fat tissue., Materials and Methods: The retrobulbar fat tissue of 14 eyes in 14 participants was scanned by sonoelastography. All the participants had permanent vision loss secondary to glaucoma in at least one eye. The elasticity scores were determined and the strain ratio was based on the comparison of the average strain measured in the retrobulbar fat tissue around the optic nerve at the same depth., Results: The mean strain values for the optic nerve (B) and the retrobulbar fat tissue (A) were 0.78+/-0.61 and 1.43+/-0.99, respectively (p=0.005). The mean strain ratio (B/A) was 0.56+/-0.24., Conclusion: This preliminary study showed that by providing strain values and ratios of different orbital tissues sonoelastography may have a potential use in the diagnosis and follow-up of orbital inflammatory and infiltrative diseases.

Aim: To evaluate the safety and the short term apoptotic activity of intravitreal bevacizumab in rabbit eyes by histopathological analysis., Methods: Twenty-eight eyes of 14 rabbits were divided into three groups: 8 rabbits in group 1 and 3 rabbits in each of group 2 and group 3. Intravitreal bevacizumab (1.25mg/0.05mL) was applied to the right eyes of each subject in group 1 and group 2 (11 eyes) and the same volume of saline was applied to the left eyes of each subject in group 1 and group 3 (11 eyes). The left eyes in group 2 and the right eyes in group 3 were left untreated and used as control. Enucleated eyes were used for histopathologic analyses., Results: After immunohistochemical staining with caspase-3 and p53, there was no histological evidence of toxicity to the retina and the optic nerve in any of the sections that were analyzed in all three groups. In addition, vascular endothelial cells located at the retina and the optic nerve tissues in all groups showed a similar staining pattern with caspase-3 and p53., Conclusion: Our study showed that intravitreal bevacizumab with the dose of 1.25mg/0.05mL caused no histological signs of toxicity or apoptotic activity on the rabbit retina.

We report a case of complete tetraploidy in amniotic fluid culture obtained at 17 wk of pregnancy. Amniocentesis was performed in this pregnancy because of a high-risk maternal serum screening result and abnormal ultrasound findings. Amniotic fluid was cultured in two flasks. Growth was very slow in one culture with no growth in the other. Harvest was possible after 3 wk, which revealed tetraploidy in all studied plates. Subsequent cordocentesis was performed to confirm the diagnoses of amniocentesis. Chromosomal analysis of the cordocentesis revealed a normal karyotype with 46,XY. A healthy male infant was born at term. This case illustrates that abnormal karyotypes in poor growth cultures could be misleading and should be confirmed by another technique, such as cordocentesis.

We report a case with different chromosome Y abnormalities. Case was an 11-year-old boy, who was diagnosed with short stature, referred to laboratory of human medical genetics laboratory for genetic evaluation. Chromosomal analysis of the case was carried out on peripheral blood lymphocyte culture. Classic cytogenetic analysis (G and C banding) was confirmed by using fluorescence in situ hybridization analysis (FISH) technique. Cytogenetic and FISH analysis showed a mosaic 46,X,i(Yq)/45,X/47,X,i(Yq)x2/47,XYY karyotype. Case, which was found interesting due to its rarity, is discussed with its clinical features and cytogenetic results, in the light of relevant source information. This case underlines the importance of karyotyping patients with unexplained short stature. This clinical report also will be helpful in defining the phenotypic range associated with these karyotypes.

Chromosomal heteromorphism is considered a variant of a normal karyotype, but it is more frequent in couples with repeated miscarriages. We investigated chromosomal heteromorphism in couples with repeated miscarriages in comparison with a control group. A total of 455 couples who applied to our genetic diagnosis laboratory in Diyarbakir, Turkey, were evaluated for chromosome heteromorphisms; 221 of these couples (the study group) had recurrent abortions and 234 of them (the control group) had no history of abortions and had at least one living child. The patient group of couples with recurrent abortions were found to have a significantly higher rate of chromosome heteromorphism (8.4%) in comparison with the control group (4.9%). When the patients were evaluated according to gender, males had a significantly higher rate of chromosome heteromorphism (11.3%) than females (5.4%). We conclude that since couples with recurrent abortion and males have higher rate of chromosome heteromorphism, cases of heteromorphism should not be disregarded in the etiological investigation of recurrent abortions. Further research should be done to investigate the phenotypic effects of chromosome heteromorphism.

Purpose: To evaluate the results of single-suture scleral fixation of subluxated foldable intraocular lenses (IOL) in eyes with sufficient residual capsular support., Methods: The results of IOL repositioning by single-suture scleral fixation in 6 eyes of 6 patients with IOL subluxation were included. All subluxated IOLs were single-piece hydrophilic acrylic. Subluxation resulted from posterior capsule tears in 3 eyes, zonular dialyses in 2 eyes, and zonular dialysis with a capsulorhexis tear in 1 eye. A similar technique was used in all eyes in which one haptic was externalized through a superior clear corneal incision and tied with a Pair-PAK 10-0 polypropylene suture, and was finally retracted and fixated behind the iris close to the ciliary sulcus at the 12:00 meridian. All patients were followed up for at least 6 months., Results: Best-corrected visual acuities ranged between finger counting and 20/70 (mean logMAR 1.02±0.64) preoperatively, and between 20/100 and 20/20 (mean logMAR 0.22±0.26) at the final postoperative visit. All IOLs remained centered and no significant postoperative complications were encountered except for an IOL tilt which resulted in a considerable oblique astigmatism in one eye., Conclusions: Subluxated foldable IOLs may safely be repositioned and secured with a single scleral fixation suture in selected cases with adequate amount of capsular remnants.

Gyrate atrophy is a rare metabolic disease characterized by hyperornithinemia, typical retinal and choroidal lesions, high myopia with marked astigmatism, early cataract formation, and autosomal recessive inheritance pattern. In this paper, we describe a 12-year-old boy presenting with high myopia and gyrate fundus lesions, in addition to 10-times elevated serum ornithine level.

Objective: To investigate the indications of amniocentesis for the detection of chromosomal abnormalities among a sample of patients in Southeast Turkey., Material and Methods: Between 2004 and 2007, 1,068 second-trimester amniocentesis tests were performed in the Medical Biology and Genetics Department Laboratory at Dicle University. Amniotic fluids were cultured by using long-term tissue culture for prenatal diagnosis with cytogenetic analysis. The clinical and cytogenetic findings on 1,068 second-trimester amniocenteses were analyzed. The indications, the proportions of karyotypes according to indications and complications were summarized., Results: Among the 1,068 amniocentesis cases, the maternal age between 35 and 39 years was the most common age group (34.5%). Of the clinical indications abnormal maternal serum screening results were the most common indication for amniocentesis (37.6%). Of 52 cases (4.9%) with detected chromosomal aberrations, 39 were numeric (27 trisomies, 10 sex chromosome aberrations and two triploidies) and 13 were structural (2 reciprocal translocations, 2 Robertsonian translocations and 6 inversions). The highest detection rate of chromosome aberrations was in cases undergoing amniocentesis for abnormal maternal serum screening combined with abnormal ultrasound (US) findings (8.0%)., Conclusion: This study suggests that complementary measures, such as routine antenatal US and maternal serum screening, should be added to increase the efficiency of genetic amniocentesis. Therefore, the study could be used for the establishment of a database for genetic counseling.

We reviewed cytogenetic studies performed on 4216 patients who were referred to the Cytogenetics Unit at Dicle University Hospital, Diyarbair, Southeast Turkey, between 2000 and 2009. The cases were grouped according to the reason of referral for cytogenetic analysis. The frequencies of the different types of numerical and structural abnormalities were determined, and the relative frequency of cases with abnormal karyotypes was calculated in each group. The most common reason for requesting cytogenetic testing was referral for Down syndrome and for repeated abortions. The highest frequencies of abnormal karyotypes were found among cases that were referred due to suspicion of Down syndrome (84.8%). Among the chromosomal abnormalities, sexual chromosomal abnormalities were found in 239 cases (17.6%), and Klinefelter syndrome was the most frequent sex chromosomal abnormality. Autosomal abnormalities were found in 1119 cases (82.4%), and Down syndrome was the most frequent autosomal chromosomal abnormality. In conclusion, the high rate of chromosomal abnormalities (32.2%) found in this population demonstrates the importance of cytogenetic evaluation in patients who show clinical abnormalities. This is the first report on cytogenetic testing in the southeast region of Turkey. This type of study provides a basis for determining the risks of recurrence and for deciding on clinical treatment and genetic counseling.

This study investigated parental decision-making to terminate or continue a pregnancy after prenatal diagnosis of a chromosomal abnormality among a sample of patients in Southeast Turkey. Between 2004 and 2007, 1068 amniocentesis tests were performed in the Medical Biology and Genetic Department Laboratory at Dicle University. Aneuploidy was found in 38 cases (3.56%). Genetic counseling was provided for the couples that received abnormal results, and they were later interviewed and asked if they had continued or interrupted the pregnancy after the diagnosis. When confronted with autosomal aneuploidy in which a severe prognosis was expected, 85% of cases decided to terminate the pregnancy. When confronted with sex chromosome aneuploidy with a low risk of an abnormal clinical phenotype 60% of cases decided to continue the pregnancy. Among the diagnoses with aneuploidy, pregnancy was continued in 21.1% of cases due to religious beliefs regardless of whether there was a low or severe risk of an abnormal clinical phenotype. These findings indicate that both severity of abnormality and religiosity play an important role in genetic counseling patients' decision-making processes and outcomes in Turkey. In addition, the findings suggest the need for legislation that reduces the differences in approaches between the physicians and institutions regarding parental decision-making to terminate or continue a pregnancy in our country.

The objective was to evaluate the results of Nd:YAG laser goniopuncture after viscocanalostomy and to investigate the rate of penetration in non-penetrating surgery. Results of viscocanalostomy and incidence of goniopuncture were retrospectively investigated in 33 eyes of 33 patients. Success was defined as an intraocular pressure (IOP) below 19 mmHg with an at least 30% decrease compared to the last preoperative measurement. General success rates after a mean follow-up of 33.5 +/- 11.3 months were 79 and 46%, with and without medications, respectively. Mean IOP levels, which were 37.7 +/- 9.9 mmHg at the diagnosis without treatment and 27.7 +/- 11.3 mmHg at the last preoperative measurement with medical treatment, significantly decreased to 12.7 +/- 4.8 mmHg at the last follow-up visit (P < 0.001 for both comparisons). Twelve eyes (36%) with IOPs higher than 18 mmHg during follow-up underwent laser goniopuncture. Mean IOP, which was 26.0 +/- 4.6 mmHg before goniopuncture, decreased to 11.5 +/- 4.0 mmHg immediately after the procedure (P = 0.002). Early goniopunctures (before month 3) were performed in six eyes, and late goniopunctures (after month 10) were performed in the remaining six eyes. Success rates of laser-applied eyes at the last visit were 75 and 33%, with and without medications, respectively (P = 0.568). No significant difference was found between eyes with and without goniopunctures in terms of success rates, IOP levels, and IOP reduction rates. According to the results of this study, laser goniopuncture is indicated in a significant proportion of patients following viscocanalostomy and may substantially improve the outcome of surgery.

An unusual case of CMV retinitis and AIDS who developed immune recovery uveitis (IRU) despite a low CD4+ T cell count achieved during HAART is reported. A 36-year-old female complained of blurred vision in both eyes six months after initiation of anti-CMV retinitis therapy and HAART. Ocular examination revealed a substantial intraocular inflammation causing a dense vitreous haze and frosted branch angiitis. Consecutive CD4+ T cell counts were 20 cells/mm(3) or less and plasma HIV mRNA was undetectable. The laboratory test for Cytomegalovirus was positive whereas those for infections known to cause uveitis were negative. The inflammatory reaction resolved with treatment, but she developed retinal detachment just before she died of pulmonary complications. A review of the literature led us to propose that our patient developed an intraocular inflammation which may probably be a form of IRU and it might be appropriate to employ additional criteria in the definition and the diagnosis of IRU.

Purpose: To evaluate the efficacy of the transillumination technique for precisely locating the ciliary sulcus in transscleral fixation of posterior chamber intraocular lenses (PC IOLs) by determining the haptic positions with ultrasound biomicroscopy (UBM)., Setting: Department of Ophthalmology, Numune Training and Research Hospital, Ankara, Turkey., Methods: Ultrasound biomicroscopy was used to determine the haptic positions in eyes with ab externo transsclerally fixated PC IOLs. Eyes were randomly assigned to a control group, in which transscleral fixation of a PC IOL was performed, or an endoilluminator-assisted group, in which transscleral fixation was combined with transillumination., Results: The study evaluated 33 eyes of 28 patients ranging in age from 16 to 81 years. The control group comprised 19 eyes (17 patients) and the endoilluminator-assisted group, 14 eyes (12 patients). All haptics were easily visualized with UBM. The UBM examination showed that the rate of haptics located in the sulcus was statistically significantly higher in the endoilluminator-assisted group (64%) than in the control group (24%) (P= .001). There was no significant difference in either group in the rate of precise sulcus location between the straight needle and the 28-gauge insulin needle (P> .05)., Conclusions: Ultrasound biomicroscopy showed the difficulty in reliably suturing the haptics in the ciliary sulcus, even with the use of a transillumination technique. However, the results suggest that the transillumination technique is a safe and easy procedure and helps the surgeon identify the ciliary sulcus during transscleral fixation of PC IOLs more precisely than without the use of transillumination.

Objective: To report a translocation between chromosomes 3 and 4: 46,XY,t(3;4)(p25;q31.3) in a male infant with a disorder of sexual development., Design: Case report., Setting: University hospital., Patient(s): A 1-year-old infant who presented with abnormal location of the urethral meatus., Intervention(s): Cytogenetic analysis, fluorescence in situ hybridization (FISH), and serum concentrations measurement (using peripheral blood), and clinical examination., Main Outcome Measure(s): Karyotype and clinical findings., Result(s): On clinical examination, bilateral testicular volume and phallus were determined to be undersized. Serum concentrations of T and DHEAS were low. G-banding of his chromosomes showed that the patient had a balanced translocation involving chromosomes 3 and 4: 46,XY,t(3;4)(p25;q31.3). This karyotype finding was confirmed by FISH. The FISH analysis revealed the presence of sex-determining region (SRY). The proband inherited this translocation from his father. His sister had the same translocation. However, the father and sister of the proband were clinically normal., Conclusion(s): The presence of this chromosomal anomaly and hypospadias was unique to our patient compared with others with the 46,XY,t(3;4) translocation. Although no such association has been reported to date, we think that the severe hypospadias in our case might be associated with this translocation.

Purpose: To evaluate the early and late alterations in orbital blood flow parameters in eyes with severe eyelid swelling due to blunt trauma by using colour Doppler ultrasonography (CDU)., Methods: Blood flow parameters in the ophthalmic artery (OA), central retinal artery (CRA), short posterior ciliary arteries (SPCAs) and central retinal vein (CRV) were examined by CDU in 62 eyes of 31 patients with unilateral blunt trauma and in 32 eyes of 32 normal subjects. Patients were examined within the first 5 days and at least 1 month after trauma. The traumatized eyes of patients were designated 'trauma eyes', non-traumatized fellow eyes were designated 'fellow eyes', and randomly chosen eyes of control subjects 'control eyes'., Results: In the early phase, peak systolic velocity (PSV) and end diastolic velocity (EDV) in the OA in trauma eyes were statistically significantly higher than in both fellow eyes and control eyes: the p-values for the differences in PSV and EDV between trauma eyes and fellow eyes were p < 0.001 and p = 0.001, respectively, while the p-values for the differences in PSV and EDV between trauma eyes and control eyes were p = 0.002 and p = 0.019, respectively). No other blood flow parameters obtained at the first examination in all groups were statistically different. In the late phase, PSV in the OA in trauma eyes was found to be higher than that in both fellow eyes and control eyes, but the difference was significant only between trauma eyes and fellow eyes (p = 0.028). End diastolic velocity in the CRA was statistically significantly lower in fellow eyes than in control eyes (p = 0.046). No other blood flow parameters in any vessels examined in fellow eyes and control eyes were statistically significantly different during the study period., Conclusion: Blood flow velocities detected by CDU are increased in the OA in eyes with eyelid oedema due to blunt trauma and some of these changes may persist for up to 1 month. This effect seems to be a consequence of trauma-induced hyperaemia in the orbital soft tissues rather than an expression of traumatic choroidal vasculopathy.

Purpose: To compare the results of viscocanalostomy with and without mitomycin-C (MMC)., Methods: Retrospective results of 15 standard viscocanalostomy (VCO) operations (Group 1) were compared with the prospective results of 15 VCO operations performed with intraoperative adjunctive MMC (Group 2). MMC (0.2 mg/mL) was applied over and under the superficial scleral flap for 3 minutes in Group 2 before the deep flap was prepared. Each patient was followed up for at least 1 year, and results of examinations in the first 12 months were used in the statistical comparison of the two groups. Surgical success was defined as intraocular pressure (IOP) < or = 18 mmHg., Results: Preoperative mean intraocular pressures (IOP) in Group 1 and Group 2 were 35.3+/-11.0 and 39.1+/-8.9, respectively. Mean IOP levels at the 12th month were 14.4+/-2.6 and 11.9+/-4.0, respectively, showing a significant decrease in both groups (p<0.001). Postoperative IOP course appeared to be lower in the MMC group, however, the difference was not statistically significant (p=0.554). Complete success rates without medications were 40% in Group 1 and 67% in Group 2. No significant difference was found between the two groups in terms of early and late postoperative complications, pre- and postoperative number of antiglaucoma medications, and surgical success rates at the end of the study period (p>0.05 for all). A significant difference was verified between the two groups of eyes considering the conjunctival bleb types, as low-lying, localized blebs were the most frequent type in Group 1 and thin-walled, avascular blebs were more predominant in the MMC group (p=0.004)., Conclusions: Intraoperative adjunctive MMC use might improve the long-term results of viscocanalostomy by facilitating subconjunctival filtration and might widen the indication range of the technique.

Background/aims: Even if the results are controversial and preliminary, several reports suggest that the HBV vaccine might be effective in treating HBV infection. In this study, we aimed to evaluate the efficacy and safety of specific anti-HBV vaccination for the immune tolerance phase of chronic HBV infection in a randomized, controlled study., Patients and Methods: The 47 subjects included patients that were treatment-naive with hepatitis B e antigen positivity, active hepatitis B virus replication as measured by hepatitis B virus DNA levels, persistently normal alanine transaminase levels, and with minimal or absent disease activity by liver biopsy. Thirty patients were given three intramuscular injections of 20 micro g of a pre-S2/S vaccine (GenHevac-B) on days 0, 30, and 60, and the remaining 17 patients were included in the control group. The efficacy of vaccination was evaluated by testing for loss of serum HBV DNA or decrease in its level and for HBeAg seroconversion. A significant decrease in HBV DNA levels was accepted as a decrease of >50% of initial values. The complete response was defined as loss of HBV DNA in serum with HBeAg seroconversion. Postvaccination follow-up lasted 12 months after the first dose., Results: No significant effects were observed in the vaccination population in the reduction of HBV DNA to undetectable levels, or to <50% of prevaccination levels, in HBeAg/anti-HBe seroconversion, or in transaminase levels. There was an early clearance/decrease in HBV DNA levels in five vaccinated patients by 3 months, and none in controls (P = 0.143), and two of them had sustained responses later. At the end of follow-up, complete response is almost similar in study as well as control group (13% vs. 12%, P > 0.05). Disappearance of serum HBV DNA was more frequently observed in those patients who had pretreatment viremia of <100 pg/mL in both groups. The median levels of HBV DNA and alanine transaminase activity between baseline and 12 months did not differ significantly in both groups. All patients remained HBsAg positive and none developed anti-HBs. No serious adverse event was encountered in vaccinated patients, and the therapy was well tolerated. Follow-up lasted a median of 16 months (range 12-30 months) for the study group and 18 months (range 12-31months) for the control group., Conclusions: Immunotherapy with specific anti-HBV vaccine in the immune tolerance phase of chronic HBV infection did not offer additional benefit. New immunotherapeutic strategies to control HBV infection by specific HBV vaccines in chronically infected subjects are needed.

Background/aims: Hepatitis B virus infection is among the most devastating health problems in the world, including Turkey. In this cross-sectional study, we aimed to investigate the correlations between hepatitis B virus genomic load and various measures of the progression of chronic hepatitis B virus infection., Methods: A total of 354 chronic HBsAg carriers [126 inactive HBsAg carriers, 50 asymptomatic replicative carriers (immune tolerant patients), 90 chronic hepatitis B patients and 88 patients with liver cirrhosis] were enrolled into the study. Eligible patients included males and females, 14-62 years of age, with detectable serum HBsAg, HBeAg or anti-HBe in serum at the time of screening and for at least six months before study entry. Serum hepatitis B virus DNA was detected by liquid hybridization, and results under the level of 1 pg/ml were additionally confirmed by polymerase chain reaction., Results: Of 354 patients, 118 (33%) were HBeAg-positive and 236 (67%) HBeAg-negative. Of HBeAg-negative patients, 126 (53%) had normal alanine aminotransferase, 31 (13%) had elevated alanine aminotransferase (chronic hepatitis B) and 79 (33%) had evidence of cirrhosis; corresponding figures in the HBeAg-positive patients were 50 (42%), 59 (50%) and 9 (8%). There is a significant correlation between transaminase values and histological liver damage, whereas no correlation was found between viral replication and liver damage., Conclusions: Hepatitis B virus DNA is an important and specific marker for ongoing hepatitis B virus related liver disease, but alanine aninotransferase was shown to be the best marker for liver inflammation and not hepatitis B virus viral load. Although these findings are not new, they are of some utility since they prevent unnecessary and cost-intensive viral load determinations in chronic HBsAg carriers.