视网膜色素变性差异性临床表现及影像学特征

doi:10.6040/j.issn.1673-3770.0.2015.194

山东大学耳鼻喉眼学报 ›› 2015, Vol. 29 ›› Issue (5): 87-90.doi: 10.6040/j.issn.1673-3770.0.2015.194

视网膜色素变性差异性临床表现及影像学特征

杜然, 王佳琳, 王艳玲

首都医科大学附属北京友谊医院眼科, 北京 100050

收稿日期:2015-05-21 修回日期:2015-09-25 出版日期:2015-10-16 发布日期:2015-10-16
通讯作者: 王佳琳,E-mail:wangjialin@bjmu.edu.cn E-mail:wangjialin@bjmu.edu.cn
作者简介:杜然,E-mail:13051190010@163.com
基金资助:
国家自然科学基金(81173412)

Different clinical manifestations of retinitis pigmentosa and related imaging features

DU Ran, WANG Jialin, WANG Yanling

Department of Ophthalmology, Beijing Friendship Hospital, Capital Medicine University, Beijing 100050, China

Received:2015-05-21 Revised:2015-09-25 Online:2015-10-16 Published:2015-10-16

摘要/Abstract

摘要： RU视网膜色素变性(RP)是常见的遗传性眼底疾病,典型RP的临床表现为夜盲、视盘蜡黄、骨样细胞色素沉着。现阶段随着RP基因探索的兴起及眼底影像技术的发展,相关研究发现许多RP患者并不完全表现为典型的症状与体征,不同类型的RP患者所合并非典型临床表现及影像学表现也不尽相同,部分患者还可表现为黄斑功能异常、视网膜异常反光等。现对RP的相关临床表现差异性及影像学特征作一综述。

关键词: 临床特征, 视网膜色素变性, 差异性, 影像学特征

Abstract: Retinitis pigmentosa (RP) is a shared hereditary retinal disease, usually presents with night blindness, optic sallow and pigmentation. With the development of RP gene exploration and funduscopic imagines technology, researchers found that many patients do not entirely show typical symptoms. Some patients also present with untypical visual abnormals and retinal abnormalities such as macular dysfunction or anomalous retinal reflections. Modern fundus imaging techniques including visual field examination, OCT, elecreoretinogram, could provide detailed information, guide appropriate treatment and predict prognosis. Here we review the clinical manifestation of RP and related auxiliary examination performance.

Key words: Differences, Clinical manifestations, Imaging features, Retinitis pigmentosa

中图分类号:

R774

杜然, 王佳琳, 王艳玲. 视网膜色素变性差异性临床表现及影像学特征[J]. 山东大学耳鼻喉眼学报, 2015, 29(5): 87-90.

DU Ran, WANG Jialin, WANG Yanling. Different clinical manifestations of retinitis pigmentosa and related imaging features[J]. JOURNAL OF SHANDONG UNIVERSITY (OTOLARYNGOLOGY AND OPHTHALMOLOGY), 2015, 29(5): 87-90.

参考文献

[1] 李根林. 用科学的态度正确认识视网膜色素变性[J]. 中华眼科杂志, 2009, 45(3):193-195.
[2] Paul A, Sievin G, Fishman G A. Refractive errors of retinitis pigmentosa patients[J]. Br J Ophthalmol, 1978, 62(2):164-167.
[3] Genead M A, Fishman G A, Lindeman M. Structural and functional characteristics in carriers of X-linked retinitis pigmentosa with a tapetal-like reflex[J]. Retina (Philadelphia, Pa.), 2010, 30(10):1726.
[4] Bregnhøj J, Al-Hamdani S, Sander B, et al. Reappearance of the tapetal-like reflex after prolonged dark adaptation in a female carrier of RPGR ORF15 X-linked retinitis pigmentosa[J]. Molecular vision, 2014, 20(8): 852.
[5] Hajali M, Fishman G A, Anderson R J. The prevalence of cystoid macular oedema in retinitis pigmentosa patients determined by optical coherence tomography[J]. British Journal of Ophthalmology, 2008, 92(8):1065-1068.
[6] Saatci A O, Selver O B, Seymenoglu G, et al. Bilateral intravitreal dexamethasone implant for retinitis pigmentosa-related macular edema[J].Case Rep Ophthalmol, 2013, 25(1):53-58.
[7] Sallum J M, Farah M E, Saraiva V S. Treatment of cystoid macular edema related to retinitis pigmentosa with intravitreal triamcinolone acetonide: case report[J]. Adv Exp Med Biol, 2003, 533(1):79-81.
[8] Takezawa M, Tetsuka S, Kakehashi A. Tangential vitreous traction: a possible mechanism of development of cystoid macular edema in retinitis pigmentosa[J]. Clinical ophthalmology (Auckland, NZ), 2011, 5:245.
[9] Odrobina D, Michalewska Z, Michalewski J, et al. Long-term evaluation of vitreomacular traction disorder in spectral-domain optical coherence tomography[J]. Retina, 2011, 31(2):324-331.
[10] Malagola R, Iozzo N, Grenga P. Volumetric assessment of the space between the posterior hyaloid and internal limiting membrane using SD-OCT[J]. Br J Ophthalmol, 2014, 98(1):16-18.
[11] Kim Y J, Joe S G, Lee D H, et al. Correlations between spectral-domain OCT measurements and visual acuity in cystoid macular edema associated with retinitis pigmentosa[J]. Invest Ophthalmol Vis Sci, 2013, 54(2):1303-1309.
[12] Bottoni F, Deiro A P, Giani A, et al. The natural history of lamellar macular holes: a spectral domain optical coherence tomography study[J]. Graefes Arch Clin Exp Ophthalmol, 2013, 251(2):467-475.
[13] Framme C, Wolf S, Wolf-Schnurrbusch U. Small dense particles in the retina observable by spectral-domain optical coherence tomography in age-related macular degeneration[J]. Invest Ophthalmol Vis Sci, 2010, 51(11):5965-5969.
[14] Framme C, Schweizer P, Imesch M, et al. Behavior of SD-OCT-Detected Hyperreflective Foci in the Retina of Anti-VEGF-Treated Patients with Diabetic Macular Edema[J]. Invest Ophthalmol Vis Sci, 2012, 53(9):5814-5818.
[15] Bolz M, Schmidt-Erfurth U, Deak G, et al. Optical coherence tomographic hyperreflective foci: a morphologic sign of lipid extravasation in diabetic macular edema[J]. Ophthalmology, 2009, 116(5):914-920.
[16] Kuroda M, Hirami Y, Hata M, et al. Intraretinal hyperreflective foci on spectral-domain optical coherence tomographic images of patients with retinitis pigmentosa[J]. Clin Ophthalmol (Auckland, NZ), 2014, 8:435.
[17] Dolan F M, Parks S, Hammer H, et al. The wide field multifocal electroretinogram reveals retinal dysfunction in early retinitis pigmentosa[J]. Bri J Ophthalmol, 2002, 86(4):480-481.
[18] Lai T Y Y, Chan W M, Lai R Y K, et al. The clinical applications of multifocal electroretinography: a systematic review[J]. Surv Ophthalmol, 2007, 52(1):61-96.
[19] 底煜, 周雅丽, 赵芳, 等. 视网膜色素变性的视网膜电图与光学相干断层扫描的观察分析[J].国际眼科杂志, 2011, 11(8):1347-1349.
[20] DI Yu, ZHOU Yali, ZHAO Fang, et al. Characteristics of electroretinogram and optical coherence tomography in retinitis pigmentosa[J].Inter J Ophthalmol, 2011, 11(8):1347-1349.
[21] Falsini B, Anselmi G M, Marangoni D, et al. Subfoveal choroidal blood flow and central retinal function in retinitis pigmentosa[J]. Invest Ophthalmol Vis Sci, 2011, 52(2): 1064-1069.
[22] 刘迁, 贾亚丁. 周边部视网膜病变相关区域的自发荧光表现[J]. 中华眼底病杂志, 2011, 27(2): 119-122.LIU Qian, JIA Yading. Autofluorescence manifestation in related lesions of peripheral retinopathy[J].Chin J Ocular Fundus Dis, 2011, 27(2):119-122.
[23] Schmitz-Valckenberg S, Holz F G, Bird A C, et al. Fundus autofluorescence imaging: review and perspectives[J]. Retina, 2008, 28(3):385-409.
[24] 李慧, 谢娟, 侯佳, 等. 原发性视网膜色素变性患眼自身荧光特征及其与视野改变的关系[J]. 中华眼底病杂志, 2013, 29(6):585-588.
[25] LI Hui, XIE Juan, HOU Jia, et al. Characteristics of fundus autofluorescence in primary retinitis pigmentosa and its relationship with visual fields[J]. Chin J Ocular Fundus Dis, 2013, 29(6):585-588.

多维度评价

Viewed

Full text

Abstract

Cited

Shared

Discussed

视网膜色素变性差异性临床表现及影像学特征

Different clinical manifestations of retinitis pigmentosa and related imaging features

PDF (PC)

摘要/Abstract

引用本文

使用本文

参考文献

相关文章 9

多维度评价

本文评价

推荐阅读 0

[1]	许明,罗兴谷,唐洪波,江青山. 儿童突发性聋的临床特征及预后相关因素分析[J]. 山东大学耳鼻喉眼学报, 2018, 32(5): 41-44.
[2]	颜昕,王翠,赵博军. 息肉状脉络膜血管病变的临床表现分析[J]. 山东大学耳鼻喉眼学报, 2017, 31(4): 98-102.
[3]	杨琳琳综述, 宋西成,韩锋产审校. Fascin-2基因功能的研究进展[J]. 山东大学耳鼻喉眼学报, 2016, 30(6): 81-84.
[4]	刘学升,李筱瑜,邓玮. 后半规管良性阵发性位置性眩晕急性发作时的临床表现[J]. 山东大学耳鼻喉眼学报, 2016, 30(6): 11-13.
[5]	刘英,季青,封新荣,刘文. 中老年人真菌球性鼻窦炎临床特征及鼻内镜手术观察[J]. 山东大学耳鼻喉眼学报, 2016, 30(4): 98-100.
[6]	周荣金, 王俊国. 鼻咽部肌上皮癌1例报告并文献复习[J]. 山东大学耳鼻喉眼学报, 2014, 28(4): 33-34.
[7]	尹炜炜，王刚，宫妍，刘晓芳，黄新英. 鼠神经生长因子治疗视网膜色素变性的临床观察[J]. 山东大学耳鼻喉眼学报, 2010, 24(4): 68-70.
[8]	薛飞，江满杰，程友，王锦玲，周玫，王秋萍，李泽卿. 周围神经遗传病合并听神经病4例并文献复习[J]. 山东大学耳鼻喉眼学报, 2009, 23(3): 25-27.
[9]	梅芳,陈志钧,徐再兴 . 小儿视网膜母细胞瘤17例[J]. 山东大学耳鼻喉眼学报, 2008, 22(1): 25-26 .