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    ABSTRACT: Abstract Purpose: To investigate whether the g.4760C > T mutation in the catalase gene (CAT) is a risk factor for primary open angle glaucoma (POAG) in the Saudi population. Methods: A cohort of 225 unrelated POAG patients and 403 unrelated control subjects from Saudi Arabia were genotyped for a single nucleotide polymorphism (SNP; rs1001179; g.4760C > T) in the CAT gene utilizing Taq-Man® assay. The association between mutant genotypes and various clinical indices important for POAG was also investigated. Results: The distribution of different genotypes was comparable between both study groups. The genotype "C/C" was predominant among cases; 169 (75.1%) as well as among the controls; 289 (71.7%). As for the heterozygous mutated genotype "C/T", it was present in 52 (23.1%) of cases and 103 (25.6%) of controls, where the homozygous fully mutated genotype was present in only 4 (1.8%) of cases and 11 (2.7%) of the controls. The distribution of mutant allele was similar in both study groups (p = 0.218). Interestingly, there was a trend of association between the type of the mutation (homozygous versus heterozygous) and three clinical parameters important for predicting the severity of the disease. These parameters include mean age of onset, mean level of intraocular pressure (IOP) and mean months of duration of encountering glaucoma. Conclusions: There were no statistically significant differences between cases and controls in terms of the different genotype distribution. This mutation is possibly associated with various clinical indices important for POAG and thus may be used as a parameter for assessing POAG severity, at least in this population.
    Ophthalmic Genetics 12/2013; 34(4):223-8.
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    ABSTRACT: Abstract Purpose: To evaluate the effect of punctal plug use in preventing dry eye after laser in situ keratomileusis (LASIK). Materials and Methods: A randomized clinical trial at a tertiary eye care center, Riyadh, Saudi Arabia. Participants underwent LASIK for myopia in both eyes and a lower punctal occlusion in one eye only while the other eye served as control. Both eyes received the same postoperative medications except for lubricant duration (subject eye: four times per day for one week; control eye: four times per day for 6 months). Participants were evaluated at 1 week, 2, and 6 months after surgery for signs and symptoms of dry eye. The main outcome measures were visual acuity; ocular surface parameters; and Ocular Surface Disease Index questionnaire. Results: Seventy-eight eyes of 39 patients were included in this study. The Ocular Surface Disease Index scores of eyes with punctal plugs were better at all follow-up visits, and the differences between both eyes were statistically significant (1 week, p < 0.0001; 2 months, p < 0.0001; 6 months, p = 0.008). At the final follow-up visit, the percentage of normal eyes was higher in eyes with punctal plugs for all ocular surface parameters (Schirmer 1 test, 94.9%; tear breakup time, 77.8%; punctate epithelial keratitis score, 71.8%) compared to eyes without occlusion (Schirmer 1 test, 92.3%; tear breakup time, 58.3%; punctate epithelial keratitis score, 53.8%); however, such differences were not statistically significant. Conclusion: Punctal plug insertion after LASIK surgeries may minimize the need for frequent lubricant application and hence improve patient satisfaction.
    Current eye research 10/2013;
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    ABSTRACT: To evaluate outcomes of temporary silicone oil (SO) tamponade in patients with complex retinal detachment. A retrospective study of 184 eyes of 177 consecutive patients who underwent SO removal (SOR) by one surgeon between 2000 and 2010. Indications for the use of SO were proliferative vitreoretinopathy (56 eyes), difficult rhegmatogenous retinal detachment (RRD) (58 eyes), diabetic traction retinal detachment (DTRD) (29 eyes), RRD due to macular hole in highly myopic eyes (16 eyes), giant retinal tears (13 eyes), and RRD after penetrating trauma (12 eyes). All eyes underwent prophylactic 360° laser retinopexy and encircling buckle at the time of primary surgery. The mean duration of SO tamponade was 47 weeks, with a mean follow-up of 66.9 weeks after SOR. Anatomical success after SOR was achieved in 96.73 %. Final visual outcome of ≥20/200 was significantly higher in eyes with RRD compared to eyes with DTRD. Young age (≤16 years), performance of pars plana lensectomy at primary procedure and presence of pseudophakia at last follow-up were factors associated with good visual outcome in eyes with RRD. Factors predicting attached retina at last follow-up were older age (>16 years), normal intraocular pressure (IOP) at initial presentation and no relaxing retinotomy performed during the primary procedure in eyes with RRD. Complications were cataract (100 %) in phakic eyes, increased IOP (15.7 %), keratopathy (3.8 %), and hypotony (2.1 %). The low redetachment rate after SOR in the present study might be due to prophylactic 360° retinopexy and use of encircling buckles at time of primary retinal reattachment.
    International Ophthalmology 10/2013;
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    ABSTRACT: Molecular diagnosis of human disorders is referred to as the detection of the various pathogenic mutations in DNA and/or RNA samples in order to facilitate detection, diagnosis, sub-classification, prognosis, and monitoring response to therapy. The use of molecular biology techniques to expand scientific knowledge of the natural history of diseases, identify people who are at risk for acquiring specific diseases, and diagnose human diseases at the nucleic acid level. Molecular diagnostics combines laboratory medicine with the knowledge and technology of molecular genetics and has been enormously revolutionized over the last decades, benefiting from the discoveries in the field of molecular biology. This review will discuss in details the recent advances in molecular diagnostics and how the Arabian Peninsula can benefit from those techniques knowing for a fact the high percentages of consanguineous marriages and the tribal nature of marriages which resulted in high incidence of genetic diseases.
    Saudi medical journal 10/2013; 34(10):995-1001.
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    ABSTRACT: Abstract We investigated whether the c.47T > C polymorphism (SNP rs4880) in the manganese superoxide dismutase (SOD2) gene is a risk factor for primary angle closure glaucoma (PACG) in the Saudi population. Among cases (n = 139), the prevalence of various genotypes were 25.9%, 46.8% and 27.3% for T/T, C/T and C/C genotypes respectively. This trend was similar in the controls (n = 403); 22.6%, 50.1% and 27.3% for T/T, C/T and C/C respectively. The differences in genotype distribution were not statistically significant (p = 0.391 and 0.682 respectively). The minor allele frequency was 50.7% in cases and 52.4% in controls; this difference was not statistically significant (p = 0.676). Investigating the potential association between this SOD2 polymorphism and different clinical indices, there was a statistically significant difference among different genotype groups in terms of three important clinical indices for PACG; Mean age at onset, duration of onset to and the mean LogMAR visual acuity (p = 0.041, 0.018 and 0.033 respectively). The three markers are highly associated prognostic factors to diseases severity. If our results are proven in larger cohort and in various populations, then this SNP may have potentiality to be used as an indicator for PACG severity.
    Ophthalmic Genetics 09/2013;
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    ABSTRACT: Abstract Background: To evaluate possible monogenic and chromosomal anomalies in a patient with unilateral Duane retraction syndrome and modest dysmorphism. Materials and Methods: Clinical evaluation, sequencing of candidate genes, and array comparative genomic hybridization (array CGH). Results: The proband had unilateral Duane retraction syndrome (DRS) with low-set ears bilaterally, a high arched palate, and clinodactyly. Motor development and cognitive function were normal. Parents were first cousins, but no other family member was similarly affected. No mutations were detected in the HOXA1. KIF21A. SALL4, TUBB3, and CHN1 genes. Array CGH revealed a 16 Kb de novo deletion at chromosome 8p11.2 that encompassed a portion of only one gene, the Cholinergic Receptor, Nicotinic, Beta-3 (CHRNB3, Neuronal). This gene encodes a protein that is involved in the nicotinic acetylcholine receptor on neurons. It interacts functionally with other genes that code components of the acetylcholine receptor. Conclusions: This patient's chromosomal abnormality affected only one gene that is highly expressed in the brainstem and brain, involved in neurotransmission, and could be related to her Duane retraction syndrome.
    Ophthalmic Genetics 09/2013;
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    ABSTRACT: Abstract Background: To evaluate possible monogenic and chromosomal anomalies in a patient with unilateral Duane retraction syndrome, modest dysmorphism, cerebral white matter abnormalities, and normal cognitive function. Materials and Methods: Performing high-resolution array comparative genomic hybridization (array CGH) and sequencing of HOXA1, KIF21A, SALL4, and CHN1 genes. Results: The proband had unilateral Duane retraction syndrome (DRS) type III on the right with low-set ears, prominent forehead, clinodactyly, and a history of frequent infections during early childhood. Motor development and cognitive function were normal. Parents were not related, and no other family member was similarly affected. MRI revealed multiple small areas of high signal on T2 weighted images in cerebral white matter oriented along white matter tracts. Sequencing of HOXA1, KIF21A, SALL4, and CHN1 did not reveal any mutation(s). Array CGH showed a 95 Kb de novo duplication on chromosome 19q13.4 encompassing four killer cell immunoglobulin-like receptor (KIR) genes. Conclusions. KIR genes have not previously been linked to a developmental syndrome, although they are known to be expressed in the human brain and brainstem and to be associated with certain infections and autoimmune diseases, including some affecting the nervous system. DRS and brain neuroimaging abnormalities may imply a central and peripheral oligodendrocyte abnormality related in some fashion to an immunomodulatory disturbance.
    Ophthalmic Genetics 08/2013;
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    ABSTRACT: To conduct a systematic review on the safety of ranibizumab injections for diabetic macular edema by meta-analysis of recently conducted level 1 randomized clinical trials. A meta-analysis and systematic review. Main outcome measures of permissible studies were extracted and reported. The relative risk (RR) for thromboembolic events (TEEs) was calculated for those studies that met this study's inclusion criteria. The fixed-effects model (Mantel-Haenszel method) was appropriately used to calculate the pooled RR. The quality of trials was assessed using the Jadad score. Of the 2072 patients who were included from 4 eligible randomized clinical trials, 1295 patients received intravitreal ranibizumab injections. The pooled RR for TEEs after ranibizumab intravitreal injection was 0.74 (95% CI 0.52-1.06). Intravitreal ranibizumab for the treatment of diabetic macular edema did not increase the risk for TEEs as shown by this meta-analysis of 4 randomized, controlled clinical trials.
    Canadian Journal of Ophthalmology 08/2013; 48(4):317-23.
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    ABSTRACT: Neurotrophins (NTs) are emerging as important mediators of angiogenesis and fibrosis. We investigated the expression of the NTs nerve growth factor (NGF), brain-derived neurotrophic factor (BDNF), neurotrophin-3 (NT-3), and neurotrophin-4 (NT-4) and their receptors TrkA, TrkB, and TrkC in proliferative diabetic retinopathy (PDR). As a comparison, we examined the expression of NTs and their receptors in the retinas of diabetic rats. Vitreous samples from 16 PDR and 15 nondiabetic patients were studied by Western blot analysis and enzyme-linked immunosorbent assay (ELISA). Epiretinal membranes from 17 patients with PDR were studied by immunohistochemistry. Rats were made diabetic with a single high dose of streptozotocin and retinas of rats were examined by Western blot analysis. Western blot analysis revealed a significant increase in the expression of NT-3 and NT-4 and the shedding of receptors TrkA and TrkB in vitreous samples from PDR patients compared to nondiabetic controls, whereas NGF and BDNF and the receptor TrkC were not detected with the use of Western blot analysis and ELISA. In epiretinal membranes, vascular endothelial cells and myofibroblasts expressed NT-3 and the receptors TrkA, TrkB and TrkC in situ, whereas NT-4 was not detected. The expression levels of NT-3 and NT-4 and the receptors TrkA and TrkB, both in intact and solubilized forms, were upregulated in the retinas of diabetic rats, whereas the receptor TrkC was not detected. Co-immunoprecipitation studies revealed binding between NT-3 and the receptors TrkA and TrkB in the retinas of diabetic rats. Our findings in diabetic eyes from humans and rats suggest that the increased expression levels within the NT-3 and NT-4/Trk axis are associated with the progression of PDR.
    PLoS ONE 06/2013; 8(6):e65472.
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    ABSTRACT: Abstract Purpose: To assess long-term efficacy and safety of infliximab for refractory Behçet disease (BD) uveitis and to evaluate the effect of withdrawal of infliximab after achieving long-term remission. Methods: Retrospective study of 19 patients. Results: Mean follow-up was 44.1 ± 36.5 months and mean number of infliximab infusions was 21.6 ± 14.6. At end of follow-up, there was significant improvement of visual acuity and reduction of central macular thickness. All patients achieved remission, 14 of whom were able to discontinue corticosteroids. Ten patients developed autoantibodies and 1 patient developed infusion reactions. Eight eyes underwent intraocular surgery without exacerbation of quiescent uveitis. After achieving complete remission, 5 patients discontinued infliximab and maintained remission during a mean of 24.6 ± 5.5 months. Conclusions: Infliximab is effective and safe for long-term treatment for refractory BD uveitis. Repeated infusions are required to maintain long-term remission, which may be sustained despite withdrawal of infliximab. Induction of autoantibodies is common.
    Ocular immunology and inflammation 06/2013;
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