与正常角膜相比,圆锥角膜患者的断层扫描和遗传方面的评估
2017年2月28日 更新者:Gildasio Castello de Almeida Junior、Sao Jose do Rio Preto Medical School
通过临床检查和地形图诊断的圆锥角膜患者的断层扫描 (Pentacam) 参数和视觉系统同源框 1 (VSX1)、超氧化物歧化酶 (SOD1)、金属蛋白酶组织抑制剂 (TIMP3) 基因的遗传参数的评估。
基本上,我们正在筛选没有圆锥角膜和有圆锥角膜的患者。
对角膜曲率、最薄点、角膜高阶像差、前后仰角、角膜密度测定、角膜体积进行了五聚体指数的研究。
为了分析这些基因,我们将提交交联的患者的角膜上皮样本与 (PRK) 光折射角膜切除术患者进行了比较。
也将评估外周血的基因。
研究概览
详细说明
圆锥角膜是一种常见的角膜疾病,影响所有民族的男女两性,患者可单侧或双侧发病。
圆锥角膜是一种退化性疾病,在各种情况下其进展速度可能很快,每 2,000 人中就有 1 人受到影响,这会导致角膜发生严重的结构变化,从而减少其厚度并将其正常曲率修改为更圆锥形。
圆锥角膜出现在青春期并持续三十至四十岁,在此期间它趋于稳定并且被认为是角膜移植的主要原因。
过敏症、过度使用隐形眼镜和揉眼睛的行为等因素也与该病有关。
临床表现由许多不同的症状组成,并且取决于疾病进展的阶段。
目前已知遗传和环境因素与疾病的出现有关。
最近几项遗传学研究旨在鉴定与圆锥角膜直接相关的基因突变,例如 VSX1、SOD1 和 TIMP3 基因。
然而,尽管努力旨在了解这种疾病的遗传方面,涉及许多基因,但关于这些基因在圆锥角膜病因学中的作用仍然存在许多问题。
因此,本研究旨在通过分析圆锥角膜角膜组织和外周血中的核苷酸序列,确定 VSX1、SOD1 和 TIMP3 基因突变的存在,这些基因被认为是这种眼部异常起源和发展的重要候选者患者,以单侧和双侧形式。
结果将允许比较单侧和双侧形式的圆锥角膜的不同分析组织中呈现的突变,并将它们与健康患者的相同组织进行比较,以试图确定可能遗传和/或获得的基因突变导致这种情况的原因健康)状况。
因此,提供了尚未在巴西人群中发表的遗传数据,这可能会为圆锥角膜的起源和发展的突变动力学及其模式的表征提供补贴。
还将评估断层扫描指数,如角膜曲率、最薄点、角膜高阶像差、后仰角和前仰角、角膜密度测定法、角膜体积。
这个想法集中在对侧眼睛有明显圆锥角膜的可疑角膜上。
研究类型
介入性
注册 (实际的)
210
阶段
- 不适用
联系人和位置
本节提供了进行研究的人员的详细联系信息,以及有关进行该研究的地点的信息。
学习地点
-
-
Sao Paulo
-
Sao Jose do Rio Preto、Sao Paulo、巴西、15015-020
- Visum Eye Center / Immunogenetic laboratory of FAMERP
-
-
参与标准
研究人员寻找符合特定描述的人,称为资格标准。这些标准的一些例子是一个人的一般健康状况或先前的治疗。
资格标准
适合学习的年龄
10年 至 60年 (成人、孩子)
接受健康志愿者
是的
有资格学习的性别
全部
描述
纳入标准:
- 经临床检查、地形图和断层扫描诊断为圆锥角膜的患者
- 患者单眼角膜临床检查、地形图、断层扫描示良好,对侧眼经临床检查、地形图、断层扫描诊断为圆锥角膜。
通过临床检查、地形图和双眼断层扫描 (OU) 诊断为圆锥角膜的患者。
- 接受 PRK 和 LASIK 手术的一定程度的屈光不正患者
排除标准:
- 眼外伤史、青光眼、功能性泪液综合征、酒渣鼻、神经营养性角膜病变、全身或局部使用免疫抑制药物、既往眼科手术史。
学习计划
本节提供研究计划的详细信息,包括研究的设计方式和研究的衡量标准。
研究是如何设计的?
设计细节
- 主要用途:放映
- 分配:非随机
- 介入模型:平行线
- 屏蔽:没有任何
武器和干预
参与者组/臂 |
干预/治疗 |
---|---|
ACTIVE_COMPARATOR:圆锥角膜
视觉系统同源框 1 (VSX1)、超氧化物歧化酶 (SOD1)、金属蛋白酶组织抑制剂 (TIMP3) 基因的评估。 没有地形图和断层圆锥角膜图案的对侧眼圆锥角膜。断层扫描数据的评估。 在圆锥角膜进展的情况下,有时我们会采集角膜上皮样本和角膜交联手术的外周血样本。 A 组圆锥角膜/像健全的角膜。 C组圆锥角膜/圆锥角膜 C组圆锥角膜/圆锥角膜 |
评估角膜上皮和外周血中的 VISX1、SOD1、TIMP3 基因。
pentacam 参数评估
其他名称:
|
PLACEBO_COMPARATOR:健全的角膜
VSX1、SOD1 和 TIMP3 基因的评估。 为了分析断层扫描方面,我们评估了接受 LASIK(Lasei 原位角膜磨镶术)且随访 2 年且没有任何角膜扩张迹象的患者。为了分析我们从 PRK 采集角膜上皮样本和外周血样本的基因(光折射角膜切除术)手术。 这些患者显示地形图和断层扫描正常模式。 B组健全角膜/健全角膜 |
评估角膜上皮和外周血中的 VISX1、SOD1、TIMP3 基因。
pentacam 参数评估
其他名称:
|
研究衡量的是什么?
主要结果指标
结果测量 |
措施说明 |
大体时间 |
---|---|---|
评估圆锥角膜、亚临床圆锥角膜与完好角膜相关的断层扫描参数,并确定受圆锥角膜影响的个体基因 VSX1、SOD1 和 TIMP3 中存在的突变。
大体时间:18个月
|
本研究的目的是评估圆锥角膜、亚临床圆锥角膜与完好角膜相关的断层扫描参数,并确定受几种表现形式的圆锥角膜影响的个体中基因 VSX1、SOD1 和 TIMP3 中存在的突变。
|
18个月
|
次要结果测量
结果测量 |
措施说明 |
大体时间 |
---|---|---|
层析参数
大体时间:18个月
|
评估已知指标的交叉参考是否可以提高亚临床圆锥角膜检测的灵敏度和特异性; - 评估不同层析指数之间是否存在相关性;评估圆锥角膜和无圆锥角膜患者的角膜光密度测定。 |
18个月
|
遗传评估,VISX1,SOD1,TIMP3
大体时间:18个月
|
如果在去除上皮后角膜的曲率、高度和几何形状发生非常大的变化,则为一个值;
|
18个月
|
合作者和调查者
在这里您可以找到参与这项研究的人员和组织。
调查人员
- 首席研究员:Gildasio C Almeida Jr, MD, PhD、FAMERP, Visum Eye Center
出版物和有用的链接
负责输入研究信息的人员自愿提供这些出版物。这些可能与研究有关。
一般刊物
- Bisceglia L, De Bonis P, Pizzicoli C, Fischetti L, Laborante A, Di Perna M, Giuliani F, Delle Noci N, Buzzonetti L, Zelante L. Linkage analysis in keratoconus: replication of locus 5q21.2 and identification of other suggestive Loci. Invest Ophthalmol Vis Sci. 2009 Mar;50(3):1081-6. doi: 10.1167/iovs.08-2382. Epub 2008 Oct 31.
- Karolak JA, Gajecka M. Genomic strategies to understand causes of keratoconus. Mol Genet Genomics. 2017 Apr;292(2):251-269. doi: 10.1007/s00438-016-1283-z. Epub 2016 Dec 28.
- Li X, Yang H, Rabinowitz YS. Longitudinal study of keratoconus progression. Exp Eye Res. 2007 Oct;85(4):502-7. doi: 10.1016/j.exer.2007.06.016. Epub 2007 Jul 6.
- Abu-Amero KK, Kalantan H, Al-Muammar AM. Analysis of the VSX1 gene in keratoconus patients from Saudi Arabia. Mol Vis. 2011 Mar 8;17:667-72.
- Alio JL, Shabayek MH. Corneal higher order aberrations: a method to grade keratoconus. J Refract Surg. 2006 Jun;22(6):539-45. doi: 10.3928/1081-597X-20060601-05.
- Ambrosio R Jr, Alonso RS, Luz A, Coca Velarde LG. Corneal-thickness spatial profile and corneal-volume distribution: tomographic indices to detect keratoconus. J Cataract Refract Surg. 2006 Nov;32(11):1851-9. doi: 10.1016/j.jcrs.2006.06.025.
- Ambrosio R Jr, Caiado AL, Guerra FP, Louzada R, Sinha RA, Luz A, Dupps WJ, Belin MW. Novel pachymetric parameters based on corneal tomography for diagnosing keratoconus. J Refract Surg. 2011 Oct;27(10):753-8. doi: 10.3928/1081597X-20110721-01. Epub 2011 Jul 29.
- Arnal E, Peris-Martinez C, Menezo JL, Johnsen-Soriano S, Romero FJ. Oxidative stress in keratoconus? Invest Ophthalmol Vis Sci. 2011 Nov 4;52(12):8592-7. doi: 10.1167/iovs.11-7732.
- Bae GH, Kim JR, Kim CH, Lim DH, Chung ES, Chung TY. Corneal topographic and tomographic analysis of fellow eyes in unilateral keratoconus patients using Pentacam. Am J Ophthalmol. 2014 Jan;157(1):103-109.e1. doi: 10.1016/j.ajo.2013.08.014. Epub 2013 Oct 25.
- Beckh U, Schonherr U, Naumann GO. [Autosomal dominant keratoconus as the chief ocular symptom in Lobstein osteogenesis imperfecta tarda]. Klin Monbl Augenheilkd. 1995 Apr;206(4):268-72. doi: 10.1055/s-2008-1035438. German.
- Behndig A, Karlsson K, Johansson BO, Brannstrom T, Marklund SL. Superoxide dismutase isoenzymes in the normal and diseased human cornea. Invest Ophthalmol Vis Sci. 2001 Sep;42(10):2293-6.
- Bardak H, Gunay M, Yildiz E, Bardak Y, Gunay B, Ozbas H, Bagci O. Novel visual system homeobox 1 gene mutations in Turkish patients with keratoconus. Genet Mol Res. 2016 Nov 3;15(4). doi: 10.4238/gmr15049024.
- Bykhovskaya Y, Margines B, Rabinowitz YS. Genetics in Keratoconus: where are we? Eye Vis (Lond). 2016 Jun 27;3:16. doi: 10.1186/s40662-016-0047-5. eCollection 2016.
- Chen D, Lam AK. Intrasession and intersession repeatability of the Pentacam system on posterior corneal assessment in the normal human eye. J Cataract Refract Surg. 2007 Mar;33(3):448-54. doi: 10.1016/j.jcrs.2006.11.008.
- Chow RL, Volgyi B, Szilard RK, Ng D, McKerlie C, Bloomfield SA, Birch DG, McInnes RR. Control of late off-center cone bipolar cell differentiation and visual signaling by the homeobox gene Vsx1. Proc Natl Acad Sci U S A. 2004 Feb 10;101(6):1754-9. doi: 10.1073/pnas.0306520101. Epub 2004 Jan 26.
- Collier SA. Is the corneal degradation in keratoconus caused by matrix-metalloproteinases? Clin Exp Ophthalmol. 2001 Dec;29(6):340-4. doi: 10.1046/j.1442-9071.2001.d01-17.x.
- Galvis V, Sherwin T, Tello A, Merayo J, Barrera R, Acera A. Keratoconus: an inflammatory disorder? Eye (Lond). 2015 Jul;29(7):843-59. doi: 10.1038/eye.2015.63. Epub 2015 May 1.
- Sugar J, Macsai MS. What causes keratoconus? Cornea. 2012 Jun;31(6):716-9. doi: 10.1097/ICO.0b013e31823f8c72.
- Kenney MC, Brown DJ, Rajeev B. Everett Kinsey lecture. The elusive causes of keratoconus: a working hypothesis. CLAO J. 2000 Jan;26(1):10-3.
- De Bonis P, Laborante A, Pizzicoli C, Stallone R, Barbano R, Longo C, Mazzilli E, Zelante L, Bisceglia L. Mutational screening of VSX1, SPARC, SOD1, LOX, and TIMP3 in keratoconus. Mol Vis. 2011;17:2482-94. Epub 2011 Sep 24.
- Driver PJ, Reed JW, Davis RM. Familial cases of keratoconus associated with posterior polymorphous dystrophy. Am J Ophthalmol. 1994 Aug 15;118(2):256-7. doi: 10.1016/s0002-9394(14)72911-3. No abstract available.
- Edwards M, McGhee CN, Dean S. The genetics of keratoconus. Clin Exp Ophthalmol. 2001 Dec;29(6):345-51. doi: 10.1046/j.1442-9071.2001.d01-16.x.
- Greenstein SA, Fry KL, Bhatt J, Hersh PS. Natural history of corneal haze after collagen crosslinking for keratoconus and corneal ectasia: Scheimpflug and biomicroscopic analysis. J Cataract Refract Surg. 2010 Dec;36(12):2105-14. doi: 10.1016/j.jcrs.2010.06.067.
- Grzybowski A, McGhee CN. The early history of keratoconus prior to Nottingham's landmark 1854 treatise on conical cornea: a review. Clin Exp Optom. 2013 Mar;96(2):140-5. doi: 10.1111/cxo.12035. Epub 2013 Feb 18.
- Gunes A, Tok L, Tok O, Seyrek L. The Youngest Patient with Bilateral Keratoconus Secondary to Chronic Persistent Eye Rubbing. Semin Ophthalmol. 2015;30(5-6):454-6. doi: 10.3109/08820538.2013.874480. Epub 2014 Feb 7.
- Heon E, Greenberg A, Kopp KK, Rootman D, Vincent AL, Billingsley G, Priston M, Dorval KM, Chow RL, McInnes RR, Heathcote G, Westall C, Sutphin JE, Semina E, Bremner R, Stone EM. VSX1: a gene for posterior polymorphous dystrophy and keratoconus. Hum Mol Genet. 2002 May 1;11(9):1029-36. doi: 10.1093/hmg/11.9.1029.
- Heon E, Mathers WD, Alward WL, Weisenthal RW, Sunden SL, Fishbaugh JA, Taylor CM, Krachmer JH, Sheffield VC, Stone EM. Linkage of posterior polymorphous corneal dystrophy to 20q11. Hum Mol Genet. 1995 Mar;4(3):485-8. doi: 10.1093/hmg/4.3.485.
- Hirano M, Hung WY, Cole N, Azim AC, Deng HX, Siddique T. Multiple transcripts of the human Cu,Zn superoxide dismutase gene. Biochem Biophys Res Commun. 2000 Sep 16;276(1):52-6. doi: 10.1006/bbrc.2000.3427.
- Hughes AE, Dash DP, Jackson AJ, Frazer DG, Silvestri G. Familial keratoconus with cataract: linkage to the long arm of chromosome 15 and exclusion of candidate genes. Invest Ophthalmol Vis Sci. 2003 Dec;44(12):5063-6. doi: 10.1167/iovs.03-0399.
- Ishii R, Kamiya K, Igarashi A, Shimizu K, Utsumi Y, Kumanomido T. Correlation of corneal elevation with severity of keratoconus by means of anterior and posterior topographic analysis. Cornea. 2012 Mar;31(3):253-8. doi: 10.1097/ICO.0B013E31823D1EE0.
- Jeoung JW, Kim MK, Park SS, Kim SY, Ko HS, Wee WR, Lee JH. VSX1 gene and keratoconus: genetic analysis in Korean patients. Cornea. 2012 Jul;31(7):746-50. doi: 10.1097/ICO.0b013e3181e16dd0.
- Mok JW, Baek SJ, Joo CK. VSX1 gene variants are associated with keratoconus in unrelated Korean patients. J Hum Genet. 2008;53(9):842-849. doi: 10.1007/s10038-008-0319-6. Epub 2008 Jul 15.
- Akcay EK, Uysal BS, Sarac O, Ugurlu N, Yulek F, Cagil N, Aslan N. The Effect of Corneal Epithelium on Corneal Curvature in Patients with Keratoconus. Semin Ophthalmol. 2015;30(5-6):364-71. doi: 10.3109/08820538.2013.874490. Epub 2014 Feb 27.
- Gatinel D, Malet J, Hoang-Xuan T, Azar DT. Corneal elevation topography: best fit sphere, elevation distance, asphericity, toricity, and clinical implications. Cornea. 2011 May;30(5):508-15. doi: 10.1097/ICO.0b013e3181fb4fa7.
- Kamiya K, Ishii R, Shimizu K, Igarashi A. Evaluation of corneal elevation, pachymetry and keratometry in keratoconic eyes with respect to the stage of Amsler-Krumeich classification. Br J Ophthalmol. 2014 Apr;98(4):459-63. doi: 10.1136/bjophthalmol-2013-304132. Epub 2014 Jan 23.
- Kara N, Altinkaynak H, Baz O, Goker Y. Biomechanical evaluation of cornea in topographically normal relatives of patients with keratoconus. Cornea. 2013 Mar;32(3):262-6. doi: 10.1097/ICO.0b013e3182490924.
- Karimian F, Aramesh S, Rabei HM, Javadi MA, Rafati N. Topographic evaluation of relatives of patients with keratoconus. Cornea. 2008 Sep;27(8):874-8. doi: 10.1097/ICO.0b013e31816f5edc.
- Kawata A, Kato S, Shimizu T, Hayashi H, Hirai S, Misawa H, Takahashi R. Aberrant splicing of human Cu/Zn superoxide dismutase (SOD1) RNA transcripts. Neuroreport. 2000 Aug 21;11(12):2649-53. doi: 10.1097/00001756-200008210-00009.
- Kenney MC, Chwa M, Atilano SR, Tran A, Carballo M, Saghizadeh M, Vasiliou V, Adachi W, Brown DJ. Increased levels of catalase and cathepsin V/L2 but decreased TIMP-1 in keratoconus corneas: evidence that oxidative stress plays a role in this disorder. Invest Ophthalmol Vis Sci. 2005 Mar;46(3):823-32. doi: 10.1167/iovs.04-0549.
- Kim WJ, Rabinowitz YS, Meisler DM, Wilson SE. Keratocyte apoptosis associated with keratoconus. Exp Eye Res. 1999 Nov;69(5):475-81. doi: 10.1006/exer.1999.0719.
- Klyce SD. Computer-assisted corneal topography. High-resolution graphic presentation and analysis of keratoscopy. Invest Ophthalmol Vis Sci. 1984 Dec;25(12):1426-35.
- Klyce SD. Chasing the suspect: keratoconus. Br J Ophthalmol. 2009 Jul;93(7):845-7. doi: 10.1136/bjo.2008.147371. No abstract available.
- Koenig SB, Smith RW. Keratoconus and corneal hydrops associated with compulsive eye rubbing. Refract Corneal Surg. 1993 Sep-Oct;9(5):383-4. No abstract available.
- Kosker M, Suri K, Hammersmith KM, Nassef AH, Nagra PK, Rapuano CJ. Another look at the association between diabetes and keratoconus. Cornea. 2014 Aug;33(8):774-9. doi: 10.1097/ICO.0000000000000167.
- Kuo IC, Broman A, Pirouzmanesh A, Melia M. Is there an association between diabetes and keratoconus? Ophthalmology. 2006 Feb;113(2):184-90. doi: 10.1016/j.ophtha.2005.10.009. Epub 2005 Dec 20.
- Lechner J, Porter LF, Rice A, Vitart V, Armstrong DJ, Schorderet DF, Munier FL, Wright AF, Inglehearn CF, Black GC, Simpson DA, Manson F, Willoughby CE. Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus. Hum Mol Genet. 2014 Oct 15;23(20):5527-35. doi: 10.1093/hmg/ddu253. Epub 2014 Jun 3.
- Lee JE, Oum BS, Choi HY, Lee SU, Lee JS. Evaluation of differentially expressed genes identified in keratoconus. Mol Vis. 2009 Nov 28;15:2480-7.
- Lema I, Brea D, Rodriguez-Gonzalez R, Diez-Feijoo E, Sobrino T. Proteomic analysis of the tear film in patients with keratoconus. Mol Vis. 2010 Oct 13;16:2055-61.
- Li X, Bykhovskaya Y, Haritunians T, Siscovick D, Aldave A, Szczotka-Flynn L, Iyengar SK, Rotter JI, Taylor KD, Rabinowitz YS. A genome-wide association study identifies a potential novel gene locus for keratoconus, one of the commonest causes for corneal transplantation in developed countries. Hum Mol Genet. 2012 Jan 15;21(2):421-9. doi: 10.1093/hmg/ddr460. Epub 2011 Oct 6.
- Li X, Rabinowitz YS, Tang YG, Picornell Y, Taylor KD, Hu M, Yang H. Two-stage genome-wide linkage scan in keratoconus sib pair families. Invest Ophthalmol Vis Sci. 2006 Sep;47(9):3791-5. doi: 10.1167/iovs.06-0214.
- Lim L, Wei RH, Chan WK, Tan DT. Evaluation of keratoconus in Asians: role of Orbscan II and Tomey TMS-2 corneal topography. Am J Ophthalmol. 2007 Mar;143(3):390-400. doi: 10.1016/j.ajo.2006.11.030. Epub 2006 Dec 21.
- Liskova P, Hysi PG, Waseem N, Ebenezer ND, Bhattacharya SS, Tuft SJ. Evidence for keratoconus susceptibility locus on chromosome 14: a genome-wide linkage screen using single-nucleotide polymorphism markers. Arch Ophthalmol. 2010 Sep;128(9):1191-5. doi: 10.1001/archophthalmol.2010.200. Erratum In: Arch Ophthalmol. 2010 Nov;128(11):1431.
- Balasubramanian SA, Pye DC, Willcox MD. Are proteinases the reason for keratoconus? Curr Eye Res. 2010 Mar;35(3):185-91. doi: 10.3109/02713680903477824.
- Balasubramanian SA, Mohan S, Pye DC, Willcox MD. Proteases, proteolysis and inflammatory molecules in the tears of people with keratoconus. Acta Ophthalmol. 2012 Jun;90(4):e303-9. doi: 10.1111/j.1755-3768.2011.02369.x. Epub 2012 Mar 13.
- Macsai MS, Varley GA, Krachmer JH. Development of keratoconus after contact lens wear. Patient characteristics. Arch Ophthalmol. 1990 Apr;108(4):534-8. doi: 10.1001/archopht.1990.01070060082054.
- Saad A, Gatinel D. Evaluation of total and corneal wavefront high order aberrations for the detection of forme fruste keratoconus. Invest Ophthalmol Vis Sci. 2012 May 17;53(6):2978-92. doi: 10.1167/iovs.11-8803.
- Bessho K, Maeda N, Kuroda T, Fujikado T, Tano Y, Oshika T. Automated keratoconus detection using height data of anterior and posterior corneal surfaces. Jpn J Ophthalmol. 2006 Sep-Oct;50(5):409-416. doi: 10.1007/s10384-006-0349-6.
- Maeda N, Klyce SD, Smolek MK, Thompson HW. Automated keratoconus screening with corneal topography analysis. Invest Ophthalmol Vis Sci. 1994 May;35(6):2749-57.
- Matthews FJ, Cook SD, Majid MA, Dick AD, Smith VA. Changes in the balance of the tissue inhibitor of matrix metalloproteinases (TIMPs)-1 and -3 may promote keratocyte apoptosis in keratoconus. Exp Eye Res. 2007 Jun;84(6):1125-34. doi: 10.1016/j.exer.2007.02.013. Epub 2007 Mar 7.
- McGhee CN. 2008 Sir Norman McAlister Gregg Lecture: 150 years of practical observations on the conical cornea--what have we learned? Clin Exp Ophthalmol. 2009 Mar;37(2):160-76. doi: 10.1111/j.1442-9071.2009.02009.x.
- Mikami T, Meguro A, Teshigawara T, Takeuchi M, Uemoto R, Kawagoe T, Nomura E, Asukata Y, Ishioka M, Iwasaki M, Fukagawa K, Konomi K, Shimazaki J, Nishida T, Mizuki N. Interleukin 1 beta promoter polymorphism is associated with keratoconus in a Japanese population. Mol Vis. 2013 Apr 11;19:845-51. Print 2013.
- Nielsen K, Hjortdal J, Pihlmann M, Corydon TJ. Update on the keratoconus genetics. Acta Ophthalmol. 2013 Mar;91(2):106-13. doi: 10.1111/j.1755-3768.2012.02400.x. Epub 2012 Apr 4.
- Chan S, Freund PR, MacDonald I. Advances in the genetics of eye diseases. Curr Opin Pediatr. 2013 Dec;25(6):645-52. doi: 10.1097/MOP.0000000000000026.
- Nilforoushan MR, Speaker M, Marmor M, Abramson J, Tullo W, Morschauser D, Latkany R. Comparative evaluation of refractive surgery candidates with Placido topography, Orbscan II, Pentacam, and wavefront analysis. J Cataract Refract Surg. 2008 Apr;34(4):623-31. doi: 10.1016/j.jcrs.2007.11.054.
- Ohtoshi A, Wang SW, Maeda H, Saszik SM, Frishman LJ, Klein WH, Behringer RR. Regulation of retinal cone bipolar cell differentiation and photopic vision by the CVC homeobox gene Vsx1. Curr Biol. 2004 Mar 23;14(6):530-6. doi: 10.1016/j.cub.2004.02.027.
- Ortak H, Sogut E, Tas U, Mesci C, Mendil D. The relation between keratoconus and plasma levels of MMP-2, zinc, and SOD. Cornea. 2012 Sep;31(9):1048-51. doi: 10.1097/ICO.0b013e318254c028.
- Owens H, Gamble GD, Bjornholdt MC, Boyce NK, Keung L. Topographic indications of emerging keratoconus in teenage New Zealanders. Cornea. 2007 Apr;26(3):312-8. doi: 10.1097/ICO.0b013e31802f8d87.
- Pihlblad MS, Schaefer DP. Eyelid laxity, obesity, and obstructive sleep apnea in keratoconus. Cornea. 2013 Sep;32(9):1232-6. doi: 10.1097/ICO.0b013e318281e755.
- Parker JS, van Dijk K, Melles GR. Treatment options for advanced keratoconus: A review. Surv Ophthalmol. 2015 Sep-Oct;60(5):459-80. doi: 10.1016/j.survophthal.2015.02.004. Epub 2015 Mar 5.
- Randleman JB, Dupps WJ Jr, Santhiago MR, Rabinowitz YS, Koch DD, Stulting RD, Klyce SD. Screening for Keratoconus and Related Ectatic Corneal Disorders. Cornea. 2015 Aug;34(8):e20-2. doi: 10.1097/ICO.0000000000000500. No abstract available.
- Steinberg J, Aubke-Schultz S, Frings A, Hulle J, Druchkiv V, Richard G, Katz T, Linke SJ. Correlation of the KISA% index and Scheimpflug tomography in 'normal', 'subclinical', 'keratoconus-suspect' and 'clinically manifest' keratoconus eyes. Acta Ophthalmol. 2015 May;93(3):e199-207. doi: 10.1111/aos.12590.
- Tang YG, Picornell Y, Su X, Li X, Yang H, Rabinowitz YS. Three VSX1 gene mutations, L159M, R166W, and H244R, are not associated with keratoconus. Cornea. 2008 Feb;27(2):189-92. doi: 10.1097/ICO.0b013e31815a50e7.
- Rabinowitz YS. The genetics of keratoconus. Ophthalmol Clin North Am. 2003 Dec;16(4):607-20, vii. doi: 10.1016/s0896-1549(03)00099-3.
- Wang Y, Rabinowitz YS, Rotter JI, Yang H. Genetic epidemiological study of keratoconus: evidence for major gene determination. Am J Med Genet. 2000 Aug 28;93(5):403-9.
- Rabinowitz YS. Keratoconus. Surv Ophthalmol. 1998 Jan-Feb;42(4):297-319. doi: 10.1016/s0039-6257(97)00119-7.
- Romero-Jimenez M, Santodomingo-Rubido J, Wolffsohn JS. Keratoconus: a review. Cont Lens Anterior Eye. 2010 Aug;33(4):157-66; quiz 205. doi: 10.1016/j.clae.2010.04.006.
- Rose NJ, Mackay K, Byers PH, Dalgleish R. A Gly238Ser substitution in the alpha 2 chain of type I collagen results in osteogenesis imperfecta type III. Hum Genet. 1995 Feb;95(2):215-8. doi: 10.1007/BF00209405.
- Saee-Rad S, Raoofian R, Mahbod M, Miraftab M, Mojarrad M, Asgari S, Rezvan F, Hashemi H. Analysis of superoxide dismutase 1, dual-specificity phosphatase 1, and transforming growth factor, beta 1 genes expression in keratoconic and non-keratoconic corneas. Mol Vis. 2013 Dec 8;19:2501-7. eCollection 2013.
- Saee-Rad S, Hashemi H, Miraftab M, Noori-Daloii MR, Chaleshtori MH, Raoofian R, Jafari F, Greene W, Fakhraie G, Rezvan F, Heidari M. Mutation analysis of VSX1 and SOD1 in Iranian patients with keratoconus. Mol Vis. 2011;17:3128-36. Epub 2011 Nov 30.
- Semina EV, Mintz-Hittner HA, Murray JC. Isolation and characterization of a novel human paired-like homeodomain-containing transcription factor gene, VSX1, expressed in ocular tissues. Genomics. 2000 Jan 15;63(2):289-93. doi: 10.1006/geno.1999.6093.
- Sherwin T, Brookes NH. Morphological changes in keratoconus: pathology or pathogenesis. Clin Exp Ophthalmol. 2004 Apr;32(2):211-7. doi: 10.1111/j.1442-9071.2004.00805.x.
- Spoerl E, Raiskup-Wolf F, Kuhlisch E, Pillunat LE. Cigarette smoking is negatively associated with keratoconus. J Refract Surg. 2008 Sep;24(7):S737-40. doi: 10.3928/1081597X-20080901-18.
- Stabuc-Silih M, Strazisar M, Hawlina M, Glavac D. Absence of pathogenic mutations in VSX1 and SOD1 genes in patients with keratoconus. Cornea. 2010 Feb;29(2):172-6. doi: 10.1097/ICO.0b013e3181aebf7a.
- Swartz T, Marten L, Wang M. Measuring the cornea: the latest developments in corneal topography. Curr Opin Ophthalmol. 2007 Jul;18(4):325-33. doi: 10.1097/ICU.0b013e3281ca7121.
- Tai LY, Khaw KW, Ng CM, Subrayan V. Central corneal thickness measurements with different imaging devices and ultrasound pachymetry. Cornea. 2013 Jun;32(6):766-71. doi: 10.1097/ICO.0b013e318269938d.
- Tuft SJ, Hassan H, George S, Frazer DG, Willoughby CE, Liskova P. Keratoconus in 18 pairs of twins. Acta Ophthalmol. 2012 Sep;90(6):e482-6. doi: 10.1111/j.1755-3768.2012.02448.x. Epub 2012 Jun 8.
- Ucakhan OO, Cetinkor V, Ozkan M, Kanpolat A. Evaluation of Scheimpflug imaging parameters in subclinical keratoconus, keratoconus, and normal eyes. J Cataract Refract Surg. 2011 Jun;37(6):1116-24. doi: 10.1016/j.jcrs.2010.12.049.
- Udar N, Atilano SR, Brown DJ, Holguin B, Small K, Nesburn AB, Kenney MC. SOD1: a candidate gene for keratoconus. Invest Ophthalmol Vis Sci. 2006 Aug;47(8):3345-51. doi: 10.1167/iovs.05-1500.
- Vazirani J, Basu S. Keratoconus: current perspectives. Clin Ophthalmol. 2013;7:2019-30. doi: 10.2147/OPTH.S50119. Epub 2013 Oct 14.
- Wagner H, Barr JT, Zadnik K. Collaborative Longitudinal Evaluation of Keratoconus (CLEK) Study: methods and findings to date. Cont Lens Anterior Eye. 2007 Sep;30(4):223-32. doi: 10.1016/j.clae.2007.03.001. Epub 2007 May 3.
- Wegener A, Laser-Junga H. Photography of the anterior eye segment according to Scheimpflug's principle: options and limitations - a review. Clin Exp Ophthalmol. 2009 Jan;37(1):144-54. doi: 10.1111/j.1442-9071.2009.02018.x.
- Weissman BA, Ehrlich M, Levenson JE, Pettit TH. Four cases of keratoconus and posterior polymorphous corneal dystrophy. Optom Vis Sci. 1989 Apr;66(4):243-6. doi: 10.1097/00006324-198904000-00012.
- Wilson SE, He YG, Weng J, Li Q, McDowall AW, Vital M, Chwang EL. Epithelial injury induces keratocyte apoptosis: hypothesized role for the interleukin-1 system in the modulation of corneal tissue organization and wound healing. Exp Eye Res. 1996 Apr;62(4):325-7. doi: 10.1006/exer.1996.0038.
- Wollensak G, Spoerl E, Seiler T. Riboflavin/ultraviolet-a-induced collagen crosslinking for the treatment of keratoconus. Am J Ophthalmol. 2003 May;135(5):620-7. doi: 10.1016/s0002-9394(02)02220-1.
- Wojcik KA, Blasiak J, Szaflik J, Szaflik JP. Role of biochemical factors in the pathogenesis of keratoconus. Acta Biochim Pol. 2014;61(1):55-62. Epub 2014 Mar 18.
- Zadnik K, Barr JT, Edrington TB, Everett DF, Jameson M, McMahon TT, Shin JA, Sterling JL, Wagner H, Gordon MO. Baseline findings in the Collaborative Longitudinal Evaluation of Keratoconus (CLEK) Study. Invest Ophthalmol Vis Sci. 1998 Dec;39(13):2537-46.
- Zelko IN, Mariani TJ, Folz RJ. Superoxide dismutase multigene family: a comparison of the CuZn-SOD (SOD1), Mn-SOD (SOD2), and EC-SOD (SOD3) gene structures, evolution, and expression. Free Radic Biol Med. 2002 Aug 1;33(3):337-49. doi: 10.1016/s0891-5849(02)00905-x.
研究记录日期
这些日期跟踪向 ClinicalTrials.gov 提交研究记录和摘要结果的进度。研究记录和报告的结果由国家医学图书馆 (NLM) 审查,以确保它们在发布到公共网站之前符合特定的质量控制标准。
研究主要日期
学习开始 (实际的)
2015年8月1日
初级完成 (实际的)
2016年12月31日
研究完成 (实际的)
2016年12月31日
研究注册日期
首次提交
2017年2月28日
首先提交符合 QC 标准的
2017年2月28日
首次发布 (实际的)
2017年3月6日
研究记录更新
最后更新发布 (实际的)
2017年3月6日
上次提交的符合 QC 标准的更新
2017年2月28日
最后验证
2017年2月1日
更多信息
与本研究相关的术语
其他相关的 MeSH 术语
其他研究编号
- CAAE 44071315.7.0000.5415
- 2015/17226-7 (OTHER_GRANT:FAPESP)
计划个人参与者数据 (IPD)
计划共享个人参与者数据 (IPD)?
未定
药物和器械信息、研究文件
研究美国 FDA 监管的药品
不
研究美国 FDA 监管的设备产品
不
在美国制造并从美国出口的产品
不
此信息直接从 clinicaltrials.gov 网站检索,没有任何更改。如果您有任何更改、删除或更新研究详细信息的请求,请联系 register@clinicaltrials.gov. clinicaltrials.gov 上实施更改,我们的网站上也会自动更新.