Preising Markus N, Wegscheider Erika, Friedburg Christoph, Poloschek Charlotte M, Wabbels Bettina K, Lorenz Birgit
Department of Ophthalmology, Justus-Liebig-University, Universitaetsklinikum Giessen und Marburg, Giessen, Germany.
Ophthalmology. 2009 Jun;116(6):1201-9.e1-2. doi: 10.1016/j.ophtha.2009.01.016. Epub 2009 Apr 19.
To describe fundus autofluorescence (FAF) in carriers of choroideremia (CHM), and to compare FAF findings with ophthalmoscopy and electrophysiologic and psychophysical data.
Prospective, observational case series and systematic review.
Six unrelated carriers of CHM.
Clinical examination included a comprehensive ophthalmic examination, fundus photography, FAF, kinetic perimetry, 2-color threshold perimetry (2CTP), full-field electroretinography (ERG), and multifocal ERG (mfERG). All 6 carriers (33-60 years of age) were screened for mutations in the coding region of Rab Escort Protein 1 gene (REP1) including close flanking intronic sequence and deletions within 2160 bp of 5' untranslated sequence.
Intensity and distribution of FAF, rod sensitivity loss, cone sensitivity loss in 2CTP, amplitude and latency in full-field ERG, amplitude in mfERG, and correlation of all 3 parameters.
Mutations in the coding region of REP1 were identified in 3 of 6 carriers. All 6 carriers had good visual acuity. Three carriers complained of photophobia and 1 of impaired vision in dim light. Ophthalmoscopy revealed peripapillary atrophy and retinal pigment epithelium (RPE) mottling mainly in the macular region, and additional RPE clumping and flecks of atrophy in the periphery. A very irregular pattern of low- and high-density FAF speckles was seen. Low-density FAF surrounding the optic nerve head corresponded with the peripapillary atrophy. In areas of major FAF changes, mfERG was deteriorated. The 2CTP images revealed functional disturbances in rods and cones. No general pattern was observed. On MfERG, reduced amplitudes in areas with normal cone sensitivity in 2CTP were seen.
All 6 carriers of CHM showed a characteristic FAF pattern that can guide mutation analysis. Even when other functional testing is inconspicuous, FAF is a rapid, noninvasive indicator.
FINANCIAL DISCLOSURE(S): The authors have no proprietary or commercial interest in any of the materials discussed in this article.
描述脉络膜视网膜炎（CHM）携带者的眼底自发荧光（FAF），并将FAF检查结果与检眼镜检查、电生理及心理物理学数据进行比较。
前瞻性观察病例系列及系统评价。
6名无亲缘关系的CHM携带者。
临床检查包括全面的眼科检查、眼底照相、FAF、动态视野检查、双色阈值视野检查（2CTP）、全视野视网膜电图（ERG）及多焦视网膜电图（mfERG）。对所有6名携带者（年龄33 - 60岁）进行Rab护送蛋白1基因（REP1）编码区突变筛查，包括紧邻的内含子序列及5'非翻译序列2160 bp内的缺失。
FAF的强度及分布、2CTP中视杆细胞敏感性丧失、视锥细胞敏感性丧失、全视野ERG的振幅及潜伏期、mfERG的振幅以及所有3项参数的相关性。
6名携带者中有3名在REP1编码区发现突变。所有6名携带者视力均良好。3名携带者主诉畏光，1名在暗光下视力受损。检眼镜检查发现主要在黄斑区有视乳头周围萎缩及视网膜色素上皮（RPE）斑驳，周边还有额外的RPE聚集及萎缩斑。可见非常不规则的低密度和高密度FAF斑点图案。视神经乳头周围的低密度FAF与视乳头周围萎缩相对应。在FAF主要变化区域，mfERG恶化。2CTP图像显示视杆细胞和视锥细胞存在功能障碍。未观察到一般模式。在mfERG上，2CTP中视锥细胞敏感性正常区域的振幅降低。
所有6名CHM携带者均表现出特征性的FAF模式，可指导突变分析。即使其他功能测试不明显，FAF也是一种快速、无创的指标。
作者对本文讨论的任何材料均无专利或商业利益。
Zotero 插件