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Introduction: Infectious keratitis, an inflammatory condition of the cornea, poses a significant public health concern globally. Bacterial keratitis, the most common type, primarily involves Staphylococcus aureus and Pseudomonas aeruginosa. Timely diagnosis and treatment are crucial to prevent vision loss. Case Presentation: This case report presents a 78-year-old male patient with a burning sensation persisting for 1 week. The patient was diagnosed with keratitis caused by Arthrobacter, a Gram-positive coccobacillus commonly found in the environment. While the literature reports a few cases of Arthrobacter species keratitis, limited data exist regarding its clinical course and outcomes. Treatment with ciprofloxacin eye drops resulted in complete resolution of symptoms and a clear cornea upon final follow-up. Conclusion: Arthrobacter, a rare causative agent of keratitis, requires early suspicion for accurate diagnosis and treatment. Despite the limited literature on Arthrobacter keratitis, this case highlights the importance of considering uncommon pathogens in corneal infections. Further research is necessary to understand the prevalence and clinical course of Arthrobacter keratitis.
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PURPOSE: Mutations were previously identified in the CYP1B1 gene in six out of 18 Lebanese families (33%) with primary congenital glaucoma (PCG). The purpose of this study is to determine the frequency and type of pathogenic mutations in other genes and compare to other populations using whole-exome sequencing and perform genotype-phenotype correlations. METHODS: Twelve PCG patients previously negative for CYP1B1/MYOC mutations were subjected to whole-exome sequencing. Targeted screening for glaucoma-associated genes was performed. Candidate variants were verified by Sanger sequencing and evaluated in family members for segregation analysis and in 100 normal controls. Clinical correlations were established as to severity of disease presentation, course, and visual outcomes. RESULTS: Six mutations in known PCG-causing genes were identified in five patients: homozygous mutations in CYP1B1 (p.R368G), LTBP2 (p.E1013G), and TEK (p.T693I), and heterozygous mutations in FOXC1 (p.Q92*), TEK (c.3201-1 G>A), ANGPT1 (p.K186N), and CYP1B1 (p.R368G). Two patients, negative for CYP1B1 in the previous study, were revealed positive in the current study, due to different sets of primers and PCR conditions. Potentially damaging variants were noted in several candidate genes. Except for FOXC1 mutations, all genetic variants described here are novel. Intra-ocular pressure and final optic nerve cup-to-disc ratio were highest in the patient with three mutations in LTBP2/TEK/ANGPT1 genes. CONCLUSION: This study provides new data on the spectrum of mutations of PCG in Lebanon. This highlights the genetic heterogeneity of the Lebanese population, noted for high rates of consanguinity in 50% in this cohort. This study emphasizes the importance of whole-exome sequencing in elucidating new candidate genes for PCG in the Lebanese.
Assuntos
Exoma , Glaucoma , Humanos , Exoma/genética , Líbano/epidemiologia , Análise Mutacional de DNA , Glaucoma/diagnóstico , Glaucoma/genética , Glaucoma/congênito , Citocromo P-450 CYP1B1/genética , Mutação , Linhagem , Proteínas de Ligação a TGF-beta Latente/genéticaRESUMO
The pathogenesis of neovascular age related macular degeneration (AMD) is multifactorial including inflammation and angiogenesis leading to choroidal neovascularization (CNV). Therapy against vascular endothelial growth factor (VEGF) has revolutionized the treatment of neovascular AMD. Intravitreal off-label use of bevacizumab proved to be safe. This literature review was conducted to study improvement in visual acuity, change in central retinal thickness (CRT), safety, pharmacodynamics, and possible resistance to intravitreal bevacizumab over a one-year period in eyes with neovascular AMD. We reviewed articles between 1997 and January 2010 that included at least 30 patients with AMD who received intravitreal bevacizumab monotherapy for at least 1 year. The mean number of letters gained, decrease in CRT, and number of injections were 8 letters, 125.3 µm, and 4.3 injections, respectively. Further, randomized prospective clinical trials are needed to determine the efficacy and safety of intravitreal bevacizumab in the treatment of neovascular AMD.
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Inibidores da Angiogênese/uso terapêutico , Anticorpos Monoclonais/uso terapêutico , Neovascularização de Coroide/tratamento farmacológico , Neovascularização de Coroide/etiologia , Degeneração Macular/tratamento farmacológico , Degeneração Macular/etiologia , Anticorpos Monoclonais Humanizados , Bevacizumab , Humanos , Injeções Intravítreas , Retina/patologia , Resultado do Tratamento , Fator A de Crescimento do Endotélio Vascular/antagonistas & inibidores , Acuidade Visual/fisiologiaRESUMO
Oculocutaneous albinism type 1 (OCA1) results from mutations in the tyrosinase gene, which lead to partial or complete loss of activity of the corresponding enzyme. A large number of mutations have been identified worldwide, providing insight into the pathogenesis of the disorder. We performed ophthalmic and dermatological exams on 30 Lebanese subjects with oculocutaneous albinism, then screened for mutations in the tyrosinase gene in an effort to establish the molecular basis of the disorder in our population and correlate it with phenotypic findings. The five exons of the gene together with the exon-intron boundaries and part of the promoter region were sequenced. Mutations were found in a total of 14 patients (47%) while no mutation was identified in the sequenced regions in 53% of patients. Fourteen different mutations were identified of which eight were novel while six had been previously reported. Mutations were mainly seen in patients with clinical findings, suggestive of OCA1A (64% of patients with OCA1A versus 25% of patients with OCA1B); therefore, the absence of mutations in some of the other patients may indicate the involvement of other genes.
Assuntos
Albinismo Oculocutâneo/genética , Monofenol Mono-Oxigenase/genética , Mutação/genética , Fenótipo , Albinismo Oculocutâneo/patologia , Testes Genéticos , Humanos , Líbano , Análise de Sequência de DNARESUMO
PURPOSE: To evaluate the role of intravitreal tissue plasminogen activator (tPA) in the management of central retinal vein occlusion (CRVO) in patients with symptoms for <3 days. METHODS: We evaluated the visual outcome of a consecutive series of patients with CRVO following intravitreal tPA injection. All patients presented with visual acuity worse than 20/50 within 3 days from the onset of symptoms. Main outcome measures included percentage of patients whose final vision improved to 20/50 or better and change in percentage of patients with vision of 20/200 or worse before and after treatment. RESULTS: Twelve patients received intravitreal tPA for CRVO. Nine patients (75%) had best-corrected visual acuity of 20/200 or worse at presentation compared with 4 patients (33%) at the last follow-up after treatment. Five (55%) of these 9 patients had final visual acuity that improved to 20/50 or better. The remaining four patients did not have improvement or their vision continued to worsen. All 4 patients had fluorescein angiographic evidence of >10 disk areas of capillary nonperfusion at presentation. Overall, 8 (67%) of 12 patients had final visual acuity of 20/50 or better. No side effects related to tPA injection were observed. CONCLUSION: Our data suggest that intravitreal tPA injection may have a beneficial role in the management of CRVO when used within a few days of the onset of symptoms in patients with no angiographic evidence of severe capillary nonperfusion even if initial visual acuity is 20/200 or worse.