Comparison of the optical coherence tomography-angiography (OCT-A) vascular measurements between molecularly confirmed MODY and age-matched healthy controls.

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.

Conspicuous Peripheral Retinal Hemorrhages with a Relatively Preserved Posterior Pole in Immune Thrombocytopenic Purpura.

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.

Macula and optic disc vessel density analyses in systemic lupus erythematosus with optical coherence tomography angiography.

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 ±â€…3.8%) compared to the control group (49.1 ±â€…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.

Some 2-[4-(1H-benzimidazol-1-yl) phenyl]-1H-benzimidazole derivatives overcome imatinib resistance by induction of apoptosis and reduction of P-glycoprotein activity.

Imatinib (IMA) is a tyrosine kinase inhibitor (TKI) introduced for the chronic myeloid leukemia (CML) therapy. Emergence of IMA resistance leads to the relapse and failure in CML therapy. Benzimidazole is a heterocyclic organic compound which is widely investigated for the development of anticancer drugs. In this study, we aimed to explore the anticancer effects of some 2-[4-(1H-benzimidazol-1-yl) phenyl]-1H-benzimidazole derivatives on K562S (IMA-sensitive) and K562R (IMA-resistant) cells. To analyze the cytotoxic and apoptotic effects of the compounds, K562S, K562R, and L929 cells were exposed to increasing concentrations of the derivatives. Cytotoxic effects of compounds on cell viability were analyzed with MTT assay. Apoptosis induction, caspase3/7 activity were investigated with flow cytometry and BAX, BIM, and BAD genes expression levels were analyzed with qRT-PCR. Rhodamine123 (Rho-123) staining assays were carried out to evaluate the effect of compounds on P-glycoprotein (P-gp) activity. The hit compounds were screened using molecular docking, and the binding preference of each compounds to BCR-ABL protein was evaluated. Our results indicated that compounds triggered cytotoxicity, caspase3/7 activation in K562S and K562R cells. Rho-123 staining showed that compounds inhibited P-gp activity in K562R cells. Overall, our results reveal some benzimidazole derivatives as potential anticancer agents to overcome IMA resistance in CML.

Real Life Multicenter Comparison of 24-Month Outcomes of Anti-VEGF Therapy in Diabetic Macular Edema in Turkey: Ranibizumab vs. Aflibercept vs. Ranibizumab-Aflibercept Switch.

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.

Anti-vascular endothelial growth factor therapy in diabetic macular edema: real-life outcomes from a multicenter study in Turkey over 36 months.

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.

Anatomical variations of intercostobrachial nerve: A potential candidate for neurotization after traumatic median nerve injury?

BACKGROUND: This study focused on the anatomical characteristics and variations of intercostobrachial (ICBN) nerve and median nerve to investigate the possible use of ICBN in restoration of sensory damage of hand after traumatic median nerve injury and to evaluate the feasibility of ICBN neurotization to median nerve. METHODS: Variations of ICBN were noted in 16 axillary region dissections of eight cadavers. Measurements for ICBN's suitability in terms of neurotization to brachial plexus were done with millimetric devices. The distance of ICBN to the distal end of the lateral (LCMN) and medial (MCMN) contributions of the median nerve and the diameters of ICBN, LCMN, and MCMN were measured. RESULTS: Fifteen axillary dissections exhibited ICBN, whereas it was absent on the left side of one of the cadavers. The mean diameter of ICBN at its origin was 2.0±0.7 mm and the mean diameter of ICBN at its coaptation point was 3.1±0.9 mm. The mean diameter of the LCMN was 3.9±2.0 mm, the mean diameter of MCMN was 3.5±0.9 mm. The length of ICBN was found to be adequate at both 45 and 90° of shoulder abduction to be extended to both LCMN and MCMN. The diameters of LCMN and MCMN were not significantly correlated with the diameter of ICBN both at origin and at coaptation point (LCMN: p=0.55-0.63 and MCMN: p=0.89-0.85). There is no significant difference between the diameter of LCMN and the diameter of ICBN at its coaptation point (p=0.168) and also between the diameter of MCMN and the diameter of ICBN at its coaptation point (p=0.232). CONCLUSION: All ICBNs dissected showed adequate length to reach the lateral and medial contribution of the median nerve directly. The ICBN could be a feasible candidate since its diameter was close to LCMN and MCMN according to the descriptive and inferential statistics.

Vogt Koyanagi Harada syndrome in a 15-year-old girl, steroids side effects and recurrences.

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.

Optical coherence tomography angiography findings in patients with ocular and non-ocular Behcet disease / Achados de angiografia por tomografia de coerência óptica em pacientes com doença de Behçet com e sem acometimento ocular

ABSTRACT 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.(AU)

RESUMO Objetivo: Avaliar achados de angiografia por tomografia de coerência óptica em pacientes com doença de Behçet com e sem acometimento ocular. Métodos: Foram incluídos 40 pacientes com doença de Behçet e 30 controles saudáveis. A densidade vascular retiniana nos plexos capilares superficial e profundo, a zona avascular foveal, o índice de circularidade, a densidade foveal e a área sem fluxo da retina superficial foram medidos automaticamente, através do software AngioVue para angiografia por tomografia de coerência óptica, e comparados entre os grupos. Resultados: A densidade vascular parafoveal e perifoveal média nos plexos capilares superficial e profundo, bem como a densidade foveal, foram significativamente menores nos olhos com uveíte de Behçet em comparação com os olhos sem uveíte de Behçet e os olhos dos controles saudáveis. Nos olhos com uveíte de Behçet, a acuidade visual logMAR mostrou correlação moderada com a densidade vascular parafoveal e perifoveal e com a densidade foveal (respectivamente, r=-0,43, p=0,006; r=-0,62, p<0,001; e r=-0,42, p = 0,008). Conclusão: A doença de Behçet com uveíte posterior foi associada a decréscimos significativos da vascularização perifoveal e parafoveal na retina superficial e profunda.(AU)

Fluorescein angiographic characteristic in predominantly classic and occult types of neovascular age-related macular degeneration treated with ranibizumab.

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.

Optical coherence tomography angiography findings in patients with ocular and non-ocular Behcet disease.

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.

Multimodal imaging in iodate-induced toxic retinopathy.

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.

An ultrasonographic and electromyographic evaluation of jumping stump possibly due to a neuroma in a patient with transradial amputation: A case report.

BACKGROUND AND OBJECTIVE: Jumping stump is an uncommon movement disorder characterized by involuntary movements and severe neuropathic pain in the stump. The pathophysiology and etiology of this phenomenon have not yet been clearly elucidated, and unfortunately, no proven treatment with successful recovery exists. This report aims to describe a severe painful jumping stump, possibly due to neuromas, in a traumatic transradial amputee. MATERIALS AND METHOD: We performed ultrasound examination of the painful stump depicted neuroma. Electromyographic evaluation of the stump revealed arrhythmic motor unit action potentials (MUAPs) with normal duration and amplitude; other movement disorders, such as myokymia and fasciculations, were excluded. Ultrasound should be preferred to magnetic resonance imaging (MRI) for evaluation of stumps in patients with painful stump because MRI may not be helpful due to motion artefacts. The involuntary movements ceased after surgical excision of the neuroma following failure of conservative treatments. CONCLUSION: This report confirms that neuromas are clearly associated with jumping stump. Ultrasonographic and electromyographic assessments are necessary to reveal the features of this pathology for treatment planning.

Investigating the role of BEST1 and PRPH2 variants in the molecular aetiology of adult-onset vitelliform macular dystrophies.

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_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.

Evaluation of the Effect of Proptosis on Choroidal Thickness in Graves' Ophthalmopathy

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.

Synthesis of Some Benzimidazole-derived Molecules and their Effects on PARP-1 Activity and MDA-MB-231, MDA-MB-436, MDA-MB-468 Breast Cancer Cell Viability.

BACKGROUND: Poly (ADP-ribosyl) polymerase-1 (PARP-1) inhibitors are compounds that are used to treat cancers, which are defective in DNA-repair and DNA Damage-Response (DDR) pathways. OBJECTIVE: In this study, a series of potential PARP-1 inhibitor substituted (piperazine-1-carbonyl)phenyl)-1Hbenzo[ d]imidazole-4-carboxamide compounds were synthesised and tested for their PARP-1 inhibitory and anticancer activities. METHODS: Compounds were tested by cell-free colorimetric PARP-1 activity and MTT assay in MDA-MB-231, MDA-MB-436, MDA-MB-468 breast cancer, and L929 fibroblast cell lines. RESULTS: Our results showed that compound 6a inhibited viability in MDA-MB-231 and MDA-MB-468 cells whereas 8a inhibited viability in MDA-MB-468 cells. Compound 6b significantly inhibited cell viability in tested cancer cells. However, 6b exhibited toxicity in L929 cells, whereas 6a and 8a were found to be non-toxic for L929 cells. Compounds 6a, 6b and 8a exhibited significant inhibition of PARP-1 activity. CONCLUSION: These three compounds exhibited PARP-1 inhibitory activities and anticancer effects on breast cancer cells, and further research will enlighten the underlying mechanisms of their effects.

Regression of macular edema with topical brinzolamide and nepafenac alone and identification of a novel gyrate atrophy mutation / Regressão de edema macular com o uso tópico de brinzolamida e nepafenac e identificação de uma nova mutação na atrofia girata

ABSTRACT Gyrate atrophy is a rare metabolic autosomal recessive disorder caused by ornithine aminotransferase enzyme deficiency that leads to characteristic progressive, degenerative chorioretinal findings. Patients complain mostly of low vision, night blindness, and peripheral vision loss. Posterior subcapsular cataract, myopia, choroid neovascularization, and intraretinal cysts may be accompanying factors related to vision loss. We encountered a patient with vision loss secondary to posterior subcapsular cataract and intraretinal cysts. After treatment with topical brinzolamide and nepafenac (and without any diet mo dification and/or supplementation), we observed 143- and 117-mm macular thickness resolutions with 2 and 1 Snellen lines of visual gain in his right and left eyes, respectively. Also, we detected a novel homozygous mutation in the ornithine aminotransferase gene: c.1253T>C (p.Leu418Pro). Carbonic anhydrase inhibitors and/or non-steroid anti-inflammatory drugs can control macular edema in patients with gyrate atrophy-associated intraretinal cysts. The genetic variants may also be a determinant in the responsiveness to the therapy type.

RESUMO A atrofia girata é um distúrbio autossômico recessivo metabólico raro causado pela deficiência da enzima ornitina ami notransferase, que leva a achados degenerativos coriorretinianos progressivos característicos. Os pacientes queixam-se principalmente de baixa visão, cegueira noturna e perda de vi são periférica. A catarata subcapsular posterior, a miopia, a neovascularização da coróide e os cistos intrarretinianos podem ser fatores associados à perda da visão. Encontramos um paciente com perda de visão secundária à catarata subcapsular posterior e cistos intrarretinianos. Após o tratamento com brinzolamida tópica e nepafenaco (e sem modificação e/ou suplementação da dieta), observamos resoluções de espessura macular de 143 e 117 mm e com 2 e 1 linhas de Snellen de ganho visual nos olhos direito e esquerdo, respectivamente. Além disso, detectamos uma nova mutação homozigótica no gene da ornitina aminotransfera se: c.1253T>C (p.Leu418Pro). Inibidores da anidrase carbônica e/ou drogas anti-inflamatórias não esteróides podem controlar o edema macular em pacientes com cistos intrarretinianos associados à atrofia girata. As variantes genéticas também podem ser determinantes na responsividade ao tipo de terapia.

Regression of macular edema with topical brinzolamide and nepafenac alone and identification of a novel gyrate atrophy mutation.

Gyrate atrophy is a rare metabolic autosomal recessive disorder caused by ornithine aminotransferase enzyme deficiency that leads to characteristic progressive, degenerative chorioretinal findings. Patients complain mostly of low vision, night blindness, and peripheral vision loss. Posterior subcapsular cataract, myopia, choroid neovascularization, and intraretinal cysts may be accompanying factors related to vision loss. We encountered a patient with vision loss secondary to posterior subcapsular cataract and intraretinal cysts. After treatment with topical brinzolamide and nepafenac (and without any diet mo dification and/or supplementation), we observed 143- and 117-mm macular thickness resolutions with 2 and 1 Snellen lines of visual gain in his right and left eyes, respectively. Also, we detected a novel homozygous mutation in the ornithine aminotransferase gene: c.1253T>C (p.Leu418Pro). Carbonic anhydrase inhibitors and/or non-steroid anti-inflammatory drugs can control macular edema in patients with gyrate atrophy-associated intraretinal cysts. The genetic variants may also be a determinant in the responsiveness to the therapy type.

Macular Choroidal Thickness in Patients with Ocular Hypertension as Assessed Using Enhanced Depth Imaging Optical Coherence Tomography.

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.

Ocular manifestations of Type 1 diabetes mellitus in pediatric population.

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.