Detailed functional and structural phenotype of Bietti crystalline dystrophy associated with mutations in CYP4V2 complicated by choroidal neovascularization.
Detailed functional and structural phenotype of Bietti crystalline dystrophy associated with mutations in CYP4V2 complicated by choroidal neovascularization.
复制标题
DOI：
10.3109/13816810.2015.1126616
复制
发表时间：
2016-12
影响因子：
1.2
通讯作者：
Aleman TS
中科院分区：
文献类型：
--
作者：
Fuerst NM;Serrano L;Han G;Morgan JI;Maguire AM;Leroy BP;Kim BJ;Aleman TS
详细描述Bietti晶体营养不良（BCD）伴脉络膜新生血管（CNV）患者的表型和玻璃体内贝伐珠单抗（Avastin ®; Genentech/Roche）治疗的反应。一名患有BCD和CYP 4V 2突变（c.802-8_806del13/p.H331P：c992 A>C）的34岁女性接受了完整的眼科检查、全视野闪光视网膜电图（ERG）、动态和双色暗适应视野检查以及暗适应检查。成像采用光谱域光学相干断层扫描（SD-OCT）、近红外（NIR）和短波长（SW）眼底自体荧光（FAF）和荧光素血管造影（FA）。右眼和左眼的最佳矫正视力（BCVA）分别为20/20和20/60。角膜缘有晶体样沉积物。动力场在外周范围内正常。在近红外光谱上，视网膜晶体最明显，在SD-OCT上与RPE内的高反射相对应;在SW-FAF和NIR-FAF上，视网膜旁/中心凹周围存在低荧光。视杆细胞>视锥细胞敏感性丧失围绕固定，并延伸至约10°的偏心度，对应于感光细胞外段-视网膜色素上皮（RPE）交错异常的区域。外核层厚度正常。在~76%视紫红质漂白后恢复敏感性是正常的。ERG正常。左眼视网膜下出血与SD-OCT上的RPE升高和FA上的渗漏共定位，提示CNV。每月3次玻璃体内注射贝伐珠单抗导致BCVA恢复至基线水平（20/25）。BCD中的晶体主要位于RPE内。光感受器外段和顶端RPE异常是在相对早期BCD中观察到的相对广泛的视网膜功能障碍的基础。玻璃体内注射贝伐单抗治疗CNV是有效的。
To describe in detail the phenotype of a patient with Bietti crystalline dystrophy (BCD) complicated by choroidal neovascularization (CNV) and the response to intravitreal Bevacizumab (Avastin ®; Genentech/Roche). A 34-year-old woman with BCD and mutations in CYP4V2 (c.802-8_806del13/p.H331P:c992A>C) underwent a complete ophthalmic examination, full-field flash electroretinography (ERG), kinetic and two-color dark-adapted perimetry, and dark-adaptometry. Imaging was performed with spectral domain optical coherence tomography (SD-OCT), near infrared (NIR) and short wavelength (SW) fundus autofluorescence (FAF), and fluorescein angiography (FA). Best-corrected visual acuity (BCVA) was 20/20 and 20/60 for the right and left eye, respectively. There were corneal paralimbal crystal-like deposits. Kinetic fields were normal in peripheral extent. Retinal crystals were most obvious on NIR-reflectance and corresponded with hyperreflectivities within the RPE on SD-OCT. There was parafoveal/perifoveal hypofluorescence on SW-FAF and NIR-FAF. Rod > cone sensitivity loss surrounded fixation and extended to ~10° of eccentricity corresponding to regions of photoreceptor outer segment-retinal pigmented epithelium (RPE) interdigitation abnormalities. The outer nuclear layer was normal in thickness. Recovery of sensitivity following a ~76% rhodopsin bleach was normal. ERGs were normal. A subretinal hemorrhage in the left eye co-localized with elevation of the RPE on SD-OCT and leakage on FA, suggestive of CNV. Three monthly intravitreal injections of Bevacizumab led to restoration of BCVA to baseline (20/25). Crystals in BCD were predominantly located within the RPE. Photoreceptor outer segment and apical RPE abnormalities underlie the relatively extensive retinal dysfunction observed in relatively early-stage BCD. Intravitreal Bevacizumab was effective in treating CNV in this setting.
登录
查看更多内容
影响因子：
4.2
作者：
KAISERKUPFER, MI;CHAN, CC;GAHL, WA
通讯作者：
GAHL, WA
DOI：
10.1097/iae.0000000000000592
发表时间：
2015-10-01
影响因子：
3.3
作者：
Li, Qian;Li, Yang;Peng, Xiaoyan
通讯作者：
Peng, Xiaoyan
影响因子：
2
作者：
Astuti, Galuh D. N.;Sun, Vincent;Bauwens, Miriam;Zobor, Ditta;Leroy, Bart P.;Omar, Amer;Jurklies, Bernhard;Lopez, Irma;Ren, Huanan;Yazar, Volkan;Hamel, Christian;Kellner, Ulrich;Wissinger, Bernd;Kohl, Susanne;De Baere, Elfride;Collin, Rob W. J.;Koenekoop, Robert K.
通讯作者：
Koenekoop, Robert K.
影响因子：
4.4
作者：
Jackson, Gregory R.;Scott, Ingrid U.;Edwards, John G.
通讯作者：
Edwards, John G.
影响因子：
4.4
作者：
Curcio, Christine A.;Messinger, Jeffrey D.;Spaide, Richard F.
通讯作者：
Spaide, Richard F.