Saudi Journal of Ophthalmology最新文献

{"title":"Insights into neuro-ophthalmology.","authors":"Saif A Alryalat, Osama Al Deyabat, Andrew G Lee","doi":"10.4103/sjopt.sjopt_27_24","DOIUrl":"https://doi.org/10.4103/sjopt.sjopt_27_24","url":null,"abstract":"","PeriodicalId":46810,"journal":{"name":"Saudi Journal of Ophthalmology","volume":"38 1","pages":"1"},"PeriodicalIF":0.4,"publicationDate":"2024-03-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11017010/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140856289","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Congenital superior oblique palsy in a patient with VACTERL association.","authors":"Zeynep Acar, Büşra Yılmaz Tuğan","doi":"10.4103/sjopt.sjopt_297_23","DOIUrl":"https://doi.org/10.4103/sjopt.sjopt_297_23","url":null,"abstract":"<p><p>Different types of ophthalmological defects have been reported to be accompanying vertebral anomalies, anal atresia, cardiac malformations, tracheoesophageal fistula, renal anomalies, and limb anomalies (VACTERL) association. A 7-year-old girl with a history of VACTERL association presented with upward drifting of the left eye and anomalous head posture to the right side and was diagnosed with congenital fourth nerve palsy. We report the first case representing a combination of congenital fourth nerve palsy with VACTERL association.</p>","PeriodicalId":46810,"journal":{"name":"Saudi Journal of Ophthalmology","volume":"38 1","pages":"67-70"},"PeriodicalIF":0.4,"publicationDate":"2024-03-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11017008/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140867329","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Teprotumumab in thyroid eye disease.","authors":"Hila Goldberg, Amina I Malik","doi":"10.4103/sjopt.sjopt_179_23","DOIUrl":"https://doi.org/10.4103/sjopt.sjopt_179_23","url":null,"abstract":"<p><p>Thyroid eye disease (TED) is an inflammatory condition involving the periocular and orbital soft tissues, affecting most commonly patients with hyperthyroid disorders. Traditional treatments used for the active phase of the disease range from conservative lubrication for mild symptoms to systemic immunomodulating drugs for moderate-to-severe symptoms. Teprotumumab (Tepezza) is a monoclonal antibody with an inhibitory effect on insulin-like growth factor 1 and is the first Food and Drug Administration (FDA) approved targeted medical therapy for reducing the inflammatory signs and symptoms associated with TED. Two large multicenter, randomized, double-masked, placebo-controlled trials have confirmed the efficacy and safety of teprotumumab in patients with active, moderate-to-severe TED. Recent reports and publications have also demonstrated the efficacy of teprotumumab in a wider range of patients. In this review, we summarize the clinical features and pathophysiology of TED, disease course, and traditional management methods. We further detail the development of teprotumumab, the founding studies that brought it to its FDA approval, adverse events profile, and ongoing as well as future investigations.</p>","PeriodicalId":46810,"journal":{"name":"Saudi Journal of Ophthalmology","volume":"38 1","pages":"29-33"},"PeriodicalIF":0.4,"publicationDate":"2024-03-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11017013/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140871951","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Monoclonal antibodies in neuro-ophthalmology.","authors":"Caroline C Keehn, Arman Yazdian, Patrick J Hunt, Pamela Davila-Siliezar, Noor A Laylani, Andrew G Lee","doi":"10.4103/sjopt.sjopt_256_23","DOIUrl":"https://doi.org/10.4103/sjopt.sjopt_256_23","url":null,"abstract":"<p><p>Neuro-ophthalmologic diseases include a broad range of disorders affecting the afferent and efferent visual pathways. Recently, monoclonal antibody (mAb) therapies have emerged as a promising targeted approach in the management of several of these complex conditions. Here, we describe the mechanism-specific applications and advancements in neuro-ophthalmologic mAb therapies. The application of mAbs in neuro-ophthalmologic diseases highlights our increasing understanding of disease-specific mechanisms in autoimmune conditions such as neuromyelitis optica, thyroid eye disease, and myasthenia gravis. Due to the specificity of mAb therapies, applications in neuro-ophthalmologic diseases have yielded exceptional clinical outcomes, including both reduced rate of relapse and progression to disability, visual function preservation, and quality of life improvement. These advancements have not only expanded the range of treatable neuro-ophthalmologic diseases but also reduced adverse events and increased the response rate to treatment. Further research into neuro-ophthalmologic disease mechanisms will provide accurate and specific targeting of important disease mediators through applications of future mAbs. As our understanding of these diseases and the relevant therapeutic targets evolve, we will continue to build on our understanding of how mAbs interfere with disease pathogenesis, and how these changes improve clinical outcomes and quality of life for patients.</p>","PeriodicalId":46810,"journal":{"name":"Saudi Journal of Ophthalmology","volume":"38 1","pages":"13-24"},"PeriodicalIF":0.4,"publicationDate":"2024-03-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11017005/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140870091","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical profile of amblyopia in a tertiary care facility without proper vision screening in Saudi Arabia.","authors":"Shatha Alfreihi, Rana Alsoby, Latifah Abu Haimed, Omar Asiri, Mohammed A Meeli","doi":"10.4103/sjopt.sjopt_87_22","DOIUrl":"https://doi.org/10.4103/sjopt.sjopt_87_22","url":null,"abstract":"<p><strong>Purpose: </strong>To evaluate the clinical profile of amblyopia among patients referred to a tertiary care facility in Saudi Arabia.</p><p><strong>Methods: </strong>All patients between 1 and 14 years presenting to the amblyopia clinic from 2016 to 2020 were retrospectively reviewed. Amblyopia was defined as visual acuity <0.2 LogMAR (20/30) in the worse eye or two-line difference between the two eyes. We classified patients into strabismic, refractive, mixed strabismic, and refractive and deprivation amblyopia. We subclassified our cohort according to age (< and ≥5 years).</p><p><strong>Results: </strong>Three hundred and eighty-three patients (199 male 54%) were seen in our clinic. Seventeen patients were excluded because they did not meet our inclusion criteria. The mean age at presentation was 5.05 ± 2.49 years. Strabismic amblyopia was found in 180 (49%), refractive in 101 (27.6%), mixed in 69 (19%), and deprivation in 16 (4.2%). Anisometropia in 85.25% and isometropia in 14.75%. Hyperopic astigmatism was the most common refractive error in 246 (67.2%). Esotropia was the most common deviation (90%). Strabismic amblyopia was significantly higher in the <5 years group (62.4% vs. 36.7%). While refractive amblyopia was significantly higher in ≥5 years group (38.8% vs. 15.7%) (<i>P</i> < 0.001).</p><p><strong>Conclusion: </strong>Strabismic amblyopia was the most commonly diagnosed in our cohort, especially among patients <5 years of age. Refractive amblyopia was more common in older patients and may be under-detected due to the lack of proper vision screening. The implementation of proper vision screening should help in early detection and successful treatment at an early age.</p>","PeriodicalId":46810,"journal":{"name":"Saudi Journal of Ophthalmology","volume":"38 1","pages":"78-82"},"PeriodicalIF":0.4,"publicationDate":"2024-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11016997/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140865684","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Optic disc morphology and interocular symmetry in children.","authors":"Alicia Muñoz-Gallego, Martín Rodríguez-Salgado, Cristina López-López, José L Torres-Peña, Ana Ortueta-Olartecoechea, Javier De La Cruz, Pilar Tejada-Palacios","doi":"10.4103/sjopt.sjopt_229_22","DOIUrl":"https://doi.org/10.4103/sjopt.sjopt_229_22","url":null,"abstract":"<p><strong>Purpose: </strong>The purpose of the study was to obtain a pediatric reference database for optic disc parameters and interocular symmetry. To ascertain factors that modify these parameters (age, spherical equivalent [SE], and sex).</p><p><strong>Methods: </strong>This was a cross-sectional study. 90 patients aged 5-17 years fulfilled all the inclusion criteria. After a full examination including cycloplegic refraction, all patients underwent optical coherence tomography (OCT) of the papilla using the three-dimensional (3D) scan protocol of the Topcon 3D 2000 OCT device. We provide reference values for optic disc parameters in the pediatric population. We also retrieved interocular symmetry reference values for these parameters.</p><p><strong>Results: </strong>The multivariate regression analysis did not reveal variations in any of the optic disc parameters associated with age, sex, or SE (all <i>P</i> ≥ 0.126). The 95^th percentile limit for absolute interocular differences for the cup-to-disc area ratio was 0.24. The multivariate regression analysis revealed the absence of a correlation between asymmetry of the optic disc parameters and age, sex, and the interocular difference in SE (all <i>P</i> ≥ 0.105).</p><p><strong>Conclusion: </strong>Pediatric reference databases for optic disc parameters and ranges of normality for interocular symmetry provide key diagnostic support in diseases that affect the optic nerve.</p>","PeriodicalId":46810,"journal":{"name":"Saudi Journal of Ophthalmology","volume":"38 1","pages":"47-52"},"PeriodicalIF":0.4,"publicationDate":"2024-02-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11016995/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140872944","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Inherited retinal diseases and gene therapy update.","authors":"Arif O Khan","doi":"10.4103/sjopt.sjopt_295_23","DOIUrl":"10.4103/sjopt.sjopt_295_23","url":null,"abstract":"","PeriodicalId":46810,"journal":{"name":"Saudi Journal of Ophthalmology","volume":"37 4","pages":"261-262"},"PeriodicalIF":0.4,"publicationDate":"2023-12-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10752280/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139058784","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Extended depth of focus intraocular lens versus a new monofocal intraocular lens: A prospective comparative and interventional study.","authors":"Yogika Sihmar, Basant K Singh, Vinod K Singh, Santosh Kumar, Aparajita Chaudhary, Sanchita Saini","doi":"10.4103/sjopt.sjopt_68_22","DOIUrl":"10.4103/sjopt.sjopt_68_22","url":null,"abstract":"<p><strong>Purpose: </strong>To compare the visual outcome findings between a new monofocal intraocular lens (IOL) (Tecnis Eyhance) and extended depth of focus (EDOF) IOL (Appasamy Supraphob Infocus).</p><p><strong>Methods: </strong>This prospective comparative interventional study evaluated 31 patients after implantation of Tecnis Eyhance (15 patients) and Supraphob EDOF IOL (16 patients). The uncorrected and corrected distance and intermediate and near visual acuity were measured at postoperative day 1, 1 week, 4 week, and 3 months. Contrast sensitivity, incidence of halos and glares, and patient satisfaction were assessed at 3 months postoperatively.</p><p><strong>Results: </strong>The Tecnis Eyhance (<i>n</i> = 15) and Supraphob EDOF (<i>n</i> = 16) group were comparable with respect to all preoperative parameters including biometry, visual acuity, and cataract status. The average age distribution of participants was 56 ± 6 years. Postoperatively, both groups had similar distance and intermediate vision, but the near vision was significantly better in the EDOF group (<i>P</i> < 0.01) as compared to Tecnis Eyhance at 3 months. The contrast sensitivity and patient satisfaction were similar in both the groups. The incidence of halos and glares was present in the EDOF group, but it was statistically insignificant.</p><p><strong>Conclusion: </strong>The Tecnis Eyhance and Supraphob EDOF both were effective in improving distance and intermediate vision, but the near vision was significantly better in the EDOF group. Both the groups retained good contrast sensitivity and the majority of patients were satisfied.</p>","PeriodicalId":46810,"journal":{"name":"Saudi Journal of Ophthalmology","volume":"37 4","pages":"331-336"},"PeriodicalIF":0.4,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10752279/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139058781","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Gene therapy in bestrophinopathies: Insights from preclinical studies in preparation for clinical trials.","authors":"Alessia Amato, Nida Wongchaisuwat, Andrew Lamborn, Ryan Schmidt, Lesley Everett, Paul Yang, Mark E Pennesi","doi":"10.4103/sjopt.sjopt_175_23","DOIUrl":"10.4103/sjopt.sjopt_175_23","url":null,"abstract":"<p><p>The <i>BEST1</i> gene encodes bestrophin-1, a homopentameric ion channel expressed in the retinal pigment epithelium (RPE), where it localizes to the basolateral plasma membrane. Pathogenic variants in this gene can cause different autosomal dominant and recessive inherited retinal diseases (IRDs), collectively named \"bestrophinopathies.\" These disorders share a number of clinical and molecular features that make them an appealing target for gene therapy. Clinically, bestrophinopathies are often slowly progressive with a wide window of opportunity, and the presence of subretinal material (vitelliform deposits and/or fluid) as a hallmark of these conditions provides an easily quantifiable endpoint in view of future clinical trials. From a molecular standpoint, most <i>BEST1</i> pathogenic variants have been shown to cause either loss of function (LOF) of the protein or a dominant-negative (DN) effect, with a smaller subset causing a toxic gain of function (GOF). Both LOF and DN mutations may be amenable to gene augmentation alone. On the other hand, individuals harboring GOF variants would require a combination of gene silencing and gene augmentation, which has been shown to be effective in RPE cells derived from patients with Best disease. In this article, we review the current knowledge of <i>BEST1</i>-related IRDs and we discuss how their molecular and clinical features are being used to design novel and promising therapeutic strategies.</p>","PeriodicalId":46810,"journal":{"name":"Saudi Journal of Ophthalmology","volume":"37 4","pages":"287-295"},"PeriodicalIF":0.4,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10752275/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139058783","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A visually guided swim assay for mouse models of human retinal disease recapitulates the multi-luminance mobility test in humans.","authors":"Salma Hassan, Ying Hsu, Sara K Mayer, Jacintha Thomas, Aishwarya Kothapalli, Megan Helms, Sheila A Baker, Joseph G Laird, Sajag Bhattarai, Arlene V Drack","doi":"10.4103/sjopt.sjopt_155_23","DOIUrl":"10.4103/sjopt.sjopt_155_23","url":null,"abstract":"<p><strong>Purpose: </strong>The purpose of this study was to develop a visually guided swim assay (VGSA) for measuring vision in mouse retinal disease models comparable to the multi-luminance mobility test (MLMT) utilized in human clinical trials.</p><p><strong>Methods: </strong>Three mouse retinal disease models were studied: Bardet-Biedl syndrome type 1 (<i>Bbs1^M390R/M390R</i>), <i>n</i> = 5; Bardet-Biedl syndrome type 10 (<i>Bbs10^-/-</i>), <i>n</i> = 11; and X linked retinoschisis (retinoschisin knockout; <i>Rs1-</i>KO), <i>n</i> = 5. Controls were normally-sighted mice, <i>n</i> = 10. Eyeless <i>Pax6^Sey-Dey</i> mice, n = 4, were used to determine the performance of animals without vision in VGSA.</p><p><strong>Results: </strong>Eyeless <i>Pax6^Sey-Dey</i> mice had a VGSA time-to-platform (TTP) 7X longer than normally-sighted controls (<i>P</i> < 0.0001). Controls demonstrated no difference in their TTP in both lighting conditions; the same was true for <i>Pax6^Sey-Dey</i>. At 4-6 M, <i>Rs1-</i>KO and <i>Bbs10^-/-</i> had longer TTP in the dark than controls (<i>P</i> = 0.0156 and <i>P</i> = 1.23 × 10^-8, respectively). At 9-11 M, both BBS models had longer TTP than controls in light and dark with times similar to <i>Pax6^Sey-Dey</i> (<i>P</i> < 0.0001), demonstrating progressive vision loss in BBS models, but not in controls nor in <i>Rs1-</i>KO. At 1 M, <i>Bbs10^-/-</i> ERG light-adapted (cone) amplitudes were nonrecordable, resulting in a floor effect. VGSA did not reach a floor until 9-11 M. ERG combined rod/cone b-wave amplitudes were nonrecordable in all three mutant groups at 9-11 M, but VGSA still showed differences in visual function. ERG values correlate non-linearly with VGSA, and VGSA measured the continual decline of vision.</p><p><strong>Conclusion: </strong>ERG is no longer a useful endpoint once the nonrecordable level is reached. VGSA differentiates between different levels of vision, different ages, and different disease models even after ERG is nonrecordable, similar to the MLMT in humans.</p>","PeriodicalId":46810,"journal":{"name":"Saudi Journal of Ophthalmology","volume":"37 4","pages":"313-320"},"PeriodicalIF":0.4,"publicationDate":"2023-11-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10752274/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139058880","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}