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Utilization of gene mapping and candidate gene mutation screening for diagnosing clinically equivocal conditions: a Norrie disease case study. 利用基因定位和候选基因突变筛选诊断临床模棱两可的条件:诺里病病例研究。
Eye science Pub Date : 2014-06-01
Vasiliki Chini, Danai Stambouli, Florina Mihaela Nedelea, George Alexandru Filipescu, Diana Mina, Marios Kambouris, Hatem El-Shantil
{"title":"Utilization of gene mapping and candidate gene mutation screening for diagnosing clinically equivocal conditions: a Norrie disease case study.","authors":"Vasiliki Chini,&nbsp;Danai Stambouli,&nbsp;Florina Mihaela Nedelea,&nbsp;George Alexandru Filipescu,&nbsp;Diana Mina,&nbsp;Marios Kambouris,&nbsp;Hatem El-Shantil","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Prenatal diagnosis was requested for an undiagnosed eye disease showing X-linked inheritance in a family. No medical records existed for the affected family members. Mapping of the X chromosome and candidate gene mutation screening identified a c.C267A[p.F89L] mutation in NPD previously described as possibly causing Norrie disease. The detection of the c.C267A[p.F89L] variant in another unrelated family confirms the pathogenic nature of the mutation for the Norrie disease phenotype. Gene mapping, haplotype analysis, and candidate gene screening have been previously utilized in research applications but were applied here in a diagnostic setting due to the scarcity of available clinical information. The clinical diagnosis and mutation identification were critical for providing proper genetic counseling and prenatal diagnosis for this family.</p>","PeriodicalId":12096,"journal":{"name":"Eye science","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2014-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33334827","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Relationship between corneal thickness, corneal curvature, and intraocular pressure before and after laser treatment for simple myopia. 单纯性近视激光治疗前后角膜厚度、角膜曲率与眼压的关系。
Eye science Pub Date : 2014-06-01
M A Ahmad, M H Edrees, E Jafarzadehpur
{"title":"Relationship between corneal thickness, corneal curvature, and intraocular pressure before and after laser treatment for simple myopia.","authors":"M A Ahmad,&nbsp;M H Edrees,&nbsp;E Jafarzadehpur","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Purpose: </strong>To determine the relationship of central corneal thickness (CCT), curvature (CC), and intraocular pressure (IOP) as determinative factors for corneal biomechanics and in refractive surgery.</p><p><strong>Methods: </strong>The study investigated 48 eyes from subjects who visited the Excimer Laser Surgery Clinic at the Department of Ophthalmology. The refractive error, IOP, CCT, and CC were measured in all participants. After 3 months, all examinations were repeated.</p><p><strong>Results: </strong>Linear regression demonstrated a significant positive relationship between pre- and postoperative CCT, CC, and IOP values. The IOP showed a significant correlation with CCT (P = 0.033) for pre-PRK, but no significant relationship was seen post-PRK. The CCT also correlated significantly with CC both pre- and post-PRK (P < 0.05).</p><p><strong>Conclusion: </strong>The IOP was significantly correlated with CCT before PRK, but its behavior differed after surgery. Nearly the same correlation was seen between CCT and CC before and after the PRK; nevertheless, IOP measurements should be calculated or estimated more precisely after PRK based on CCT corrections.</p>","PeriodicalId":12096,"journal":{"name":"Eye science","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2014-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33333365","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Relationship between corneal thickness, corneal curvature, and intraocular pressure before and after laser treatment for simple myopia. 单纯性近视激光治疗前后角膜厚度、角膜曲率与眼压的关系。
Eye science Pub Date : 2014-06-01 DOI: 10.3969/J.ISSN.1000-4432.2014.02.002
M. Ahmad, M. Edrees, E. Jafarzadehpur
{"title":"Relationship between corneal thickness, corneal curvature, and intraocular pressure before and after laser treatment for simple myopia.","authors":"M. Ahmad, M. Edrees, E. Jafarzadehpur","doi":"10.3969/J.ISSN.1000-4432.2014.02.002","DOIUrl":"https://doi.org/10.3969/J.ISSN.1000-4432.2014.02.002","url":null,"abstract":"PURPOSE To determine the relationship of central corneal thickness (CCT), curvature (CC), and intraocular pressure (IOP) as determinative factors for corneal biomechanics and in refractive surgery. METHODS The study investigated 48 eyes from subjects who visited the Excimer Laser Surgery Clinic at the Department of Ophthalmology. The refractive error, IOP, CCT, and CC were measured in all participants. After 3 months, all examinations were repeated. RESULTS Linear regression demonstrated a significant positive relationship between pre- and postoperative CCT, CC, and IOP values. The IOP showed a significant correlation with CCT (P = 0.033) for pre-PRK, but no significant relationship was seen post-PRK. The CCT also correlated significantly with CC both pre- and post-PRK (P < 0.05). CONCLUSION The IOP was significantly correlated with CCT before PRK, but its behavior differed after surgery. Nearly the same correlation was seen between CCT and CC before and after the PRK; nevertheless, IOP measurements should be calculated or estimated more precisely after PRK based on CCT corrections.","PeriodicalId":12096,"journal":{"name":"Eye science","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2014-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82275339","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 3
Nursing care of the laryngeal mask airway in pediatric cataract surgery. 小儿白内障手术中喉罩气道的护理。
Eye science Pub Date : 2014-06-01 DOI: 10.3969/J.ISSN.1000-4432.2014.02.012
A. Chen, Ronghua Ye, Yanchan Liu, Weici Liu, Jingyi Lin
{"title":"Nursing care of the laryngeal mask airway in pediatric cataract surgery.","authors":"A. Chen, Ronghua Ye, Yanchan Liu, Weici Liu, Jingyi Lin","doi":"10.3969/J.ISSN.1000-4432.2014.02.012","DOIUrl":"https://doi.org/10.3969/J.ISSN.1000-4432.2014.02.012","url":null,"abstract":"PURPOSE\u0000To investigate the important experience of nursing care of the laryngeal mask airway (LMA) in children undergoing cataract surgery.\u0000\u0000\u0000METHODS\u0000Fifty-five children undergoing cataract surgery were anesthetized by inhaling sevoflurane through a LMA and received perioperative nursing care. The safety of perioperative nursing for these children was also evaluated.\u0000\u0000\u0000RESULTS\u0000Through perioperative nursing care and psychological counseling for children with LMA, all patients were anesthetized without complications and underwent successful surgeries. No severe postoperative complications were observed.\u0000\u0000\u0000CONCLUSION\u0000Nursing care specific for LMA is a vital part of the success of anesthesia and pediatric cataract surgery.","PeriodicalId":12096,"journal":{"name":"Eye science","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2014-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88841034","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Traumatic vitreous hemorrhage in children-clinical features and outcomes. 儿童外伤性玻璃体出血的临床特征和结果。
Eye science Pub Date : 2014-06-01
Aditya Sudhalkar, Jay Chhablani, Subhadra Jalali, Raja Narayanan
{"title":"Traumatic vitreous hemorrhage in children-clinical features and outcomes.","authors":"Aditya Sudhalkar,&nbsp;Jay Chhablani,&nbsp;Subhadra Jalali,&nbsp;Raja Narayanan","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Purpose: </strong>To determine the clinical profile, causes, and outcomes of traumatic vitreous hemorrhage (TVH) in children (< 18 years of age).</p><p><strong>Methods: </strong>Retrospective computer assisted chart review. 501 eyes of 464 children (103 females; 361 males) who presented with TVH between 2001 and 2012 were included. All children underwent a complete ocular and systemic examination and investigation. The etiology, visual, and anatomic results of pediatric TVH were the outcome measures.</p><p><strong>Results: </strong>Median age: 12.27 ± 4.51 years. 37 patients had bilateral VH; 43.24% of these were firecracker injuries. Commonest complaint was diminished vision (96.45%). Mean BCVA(logMAR) at presentation was 2.64 ± 1.11 logMAR. Sticks (43.43%) and cricket balls (13.24%) were the commonest causes. Treatment included medical therapy (topical and/or systemic; 56 eyes), laser photocoagulation (34 eyes), and/ or surgery (387 eyes). Mean final BCVA was significantly better (1.01 ± 0.58 logMAR; P = 0.011, Z test). Mean follow up in the closed and open globe trauma was 47 ± 12.47 and 36.24 ± 9.72 months, respectively.</p><p><strong>Conclusion: </strong>TVH has significant implications in children. Firecracker injuries are notorious for bilateral VH.</p>","PeriodicalId":12096,"journal":{"name":"Eye science","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2014-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33333364","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Comparison of applicability of different visual acuity charts for pediatric outpatient visual tests. 不同视力表在儿科门诊视力检查中的适用性比较。
Eye science Pub Date : 2014-06-01
Haili Fang, Hongxing Diao, Linxing Chen, Junwen Zeng
{"title":"Comparison of applicability of different visual acuity charts for pediatric outpatient visual tests.","authors":"Haili Fang,&nbsp;Hongxing Diao,&nbsp;Linxing Chen,&nbsp;Junwen Zeng","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Purpose: </strong>To evaluate the applicability of different visual acuity charts for outpatient pediatric visual tests.</p><p><strong>Methods: </strong>Fifty-three children (53 eyes) aged 4-8 years undergoing visual acuity tests as outpatients were randomly selected for this study. The best corrected visual acuity (BCVA) of the eye with better visual acuity was measured for each child using the digital LogMAR visual chart, the ETDRS visual chart, and a new standard logarithm visual chart; all measurements were repeated twice and the BCVA was recorded. Paired comparisons were made between the LogMAR visual acuity chart and ETDRS chart measurements or between the ETDRS chart and logarithm visual acuity chart measurements for statistical analysis of the differences in measurement of visual acuity. The results of different measurements by the same chart were compared to evaluate the consistency of the measurement results. Bland-Altman analysis was employed to evaluate the most suitable chart for outpatient measurement of visual acuity in children.</p><p><strong>Results: </strong>Bland-Altman analysis revealed that the mean visual acuity measured was (0.447 ± 0.017 LogMAR) by the digital LogMAR chart, (0.301 ± 0.024 LogMAR) by the standard logarithm visual acuity chart, and (0.309 ± 0.018 LogMAR) by the ETDRS visual acuity chart. The BCVA was significantly lower when measured by the LogMAR visual acuity chart than by the ETDRS chart (P < 0.01). The BCVA was slightly higher when measured by the logarithm visual acuity chart than by the ETDRS chart, but the difference was not statistically significant (P > 0.05). The Bland-Altman plot showed that the highest consistency was obtained with the digital LogMAR chart, with a difference between two repeated measurements of 0.068 LogMAR, compared to 0.090 and 0.072 LogMAR for the logarithm and ETDRS visual acuity charts, respectively.</p><p><strong>Conclusion: </strong>All three types of visual acuity charts are applicable for outpatient measurement of pediatric visual acuity. The ETDRS and logarithm visual acuity charts have a higher consistency, but the LogMAR visual acuity chart shows better reproducibility. Consequently, it is difficult to identify and distinguish which acuity chart is most suitable for cooperative children.</p>","PeriodicalId":12096,"journal":{"name":"Eye science","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2014-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33333369","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Comparison of visual function after multifocal and accommodative IOL implantation. 多焦与调节型人工晶体植入术后视功能的比较。
Eye science Pub Date : 2014-06-01
Weimin Tang, Shaoxiong Zhuang, Guoan Liu
{"title":"Comparison of visual function after multifocal and accommodative IOL implantation.","authors":"Weimin Tang,&nbsp;Shaoxiong Zhuang,&nbsp;Guoan Liu","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Purpose: </strong>To compare early visual function between patients undergoing phacoemulsification combined with multifocal and accommodative intraocular lens implantation.</p><p><strong>Methods: </strong>A total of 112 patients with age-related cataract undergoing phacoemulsification in our hospital were recruited for this study and randomly assigned into multifocal (56 eyes; ZAM00 group) and accommodative (56 eyes; FLEX group) intraocular lens groups. Visual acuity and contrast sensitivity were statistically compared between the two groups.</p><p><strong>Results: </strong>No significant difference was found in uncorrected distant visual acuity between the ZMA00 and FLEX groups at 1 week, or 1, 3, and 6 months after operation (all P > 0.05). At postoperative 6 months, no statistical significance was noted in distant and intermediate best-corrected visual acuity or in contrast sensitivity between the two groups (all P > 0.05). Patients in the ZMA00 group were superior to their counterparts in the FLEX group regarding near best corrected visual acuity, reading speed, and spectacle independence (all P < 0.05).</p><p><strong>Conclusion: </strong>ZMA00 and FLEX IOL implantation can provide excellent distant and intermediate visual acuity for patients with age-related cataract. ZMA00 IOL is superior to FLEX in terms of near visual acuity.</p>","PeriodicalId":12096,"journal":{"name":"Eye science","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2014-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33334825","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Research progress in corneal cross-linking agents. 角膜交联剂的研究进展。
Eye science Pub Date : 2014-06-01
Na Li, Xiujun Peng, Zhengjun Fan
{"title":"Research progress in corneal cross-linking agents.","authors":"Na Li,&nbsp;Xiujun Peng,&nbsp;Zhengjun Fan","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Corneal collagen cross-linking with UVA-riboflavin is currently the only method for preventing the progression of keratoconus from the pathological perspective. Topical application of a direct cross-linking agent is now attracting widespread attention in clinical settings. This article reviews the research progress in the application of indirect or direct cross-linking agents (e.g., riboflavin, glucose, ribose, glutaraldehyde, formaldehyde, glyceraldehyde, short chain aliphatic β-nitro alcohol, and genipin) in the treatment of corneal diseases and analyzes the cross-linking efficacy, toxicity, and merits and disadvantages of each cross-linking agent, providing clinical information for further studies.</p>","PeriodicalId":12096,"journal":{"name":"Eye science","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2014-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33334831","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Ratio of primary episcleral buckling surgery versus primary vitrectomy for rhegmatogenous retinal detachment. 初次巩膜外扣合手术与初次玻璃体切除术治疗孔源性视网膜脱离的比较。
Eye science Pub Date : 2014-03-01
Jost B Jonas, Barbara Mangler, Alexander Decker, Frank C Schlichtenbrede
{"title":"Ratio of primary episcleral buckling surgery versus primary vitrectomy for rhegmatogenous retinal detachment.","authors":"Jost B Jonas,&nbsp;Barbara Mangler,&nbsp;Alexander Decker,&nbsp;Frank C Schlichtenbrede","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Purpose: </strong>To assess the ratio of the frequency of primary scleral buckling procedures versus the frequency of vitrectomies performed as treatment for rhegmatogenous retinal detachments in a primary retinal surgical department.</p><p><strong>Methods: </strong>The study included all patients with rhegmatogenous retinal detachments who underwent retinal or vitreoretinal surgery in the study period from 2002 to 2006. The size of the retinal defect and the amount of proliferative vitreoretinopathy were not exclusion criteria. Patients with tractional retinal detachment due to proliferative ischemic retinopathies were excluded.</p><p><strong>Results: </strong>In the study period, 875 primary retinal and vitreoretinal surgeries were performed on 875 eyes. Among the surgeries, episcleral sponges (42.9%) formed the largest part, followed by pars plana vitrectomies (35.0%) and encircling bands (22.2%). Combining episcleral sponges and encircling bands into an episcleral surgery group revealed that two thirds (65%) of the surgeries were episcleral interventions. In the episcleral sponge group, the retinal re-detachment rate after the first surgery was 13%.</p><p><strong>Conclusion: </strong>In a university department as a primary referral unit for retinal detachments, episcleral retinal surgery can still outnumber vitreoretinal interventions, with retinal re-detachment rates which do not differ markedly from the re-detachment rates reported in randomized trials comparing vitreoretinal surgery with episcleral surgery.</p>","PeriodicalId":12096,"journal":{"name":"Eye science","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2014-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33337477","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Clinical analysis of the incidence and the treatment of pediatric cataract patients with optic-nerve maldevelopment. 小儿白内障伴视神经发育不良的发病及治疗的临床分析。
Eye science Pub Date : 2014-03-01
Cancan Lv, Wei Xiao
{"title":"Clinical analysis of the incidence and the treatment of pediatric cataract patients with optic-nerve maldevelopment.","authors":"Cancan Lv,&nbsp;Wei Xiao","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Purpose: </strong>To interpret the incidence of optic-nerve maldevelopment in postoperative pediatric cataract patients, and evaluate the clinical efficacy of administration of murine nerve growth factor (mNGF) in such patients.</p><p><strong>Methods: </strong>Pattern visual evoked potential (P-VEP) was used to measure the visual pathway function in 28 cases (56 eyes) with bilateral congenital cataract and 13 cases (13 eyes) with unilateral congenital cataract who underwent cataract extraction and intraocular lens implantation surgeries. The results were compared with 25 age-sex-matched healthy children (50 eyes). mNGF was administered in 13 cases (23 eyes) who had visual pathway disorder. The efficacy of mNGF injection was observed. P100 latencies, which were used as a main parameter in P-VEP measurement, were analyzed statistically.</p><p><strong>Results: </strong>When compared with normal children, the P100 latency was significantly prolonged in the congenital cataract group (P < 0.05). A significant improvement was noted in the visual pathway of subjects treated with mNGF (P < 0.05).</p><p><strong>Conclusion: </strong>Compared with normal children, the congenital cataract patients are more vulnerable to optic-nerve maldevelopment. Murine NGF likely plays a protective and nutritive role in the development of optic nerve in cases of optic-nerve maldevelopment followed by congenital cataract surgery.</p>","PeriodicalId":12096,"journal":{"name":"Eye science","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2014-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33338050","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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