Choroideremia: Variability of clinical and electrophysiological characteristics and first report of a negative electroretinogram
Choroideremia: Variability of clinical and electrophysiological characteristics and first report of a negative electroretinogram
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DOI：
10.1016/j.ophtha.2006.05.045
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发表时间：
2006-11-01
期刊：
影响因子：
13.7
通讯作者：
Foerster, Michael H.
中科院分区：
文献类型：
--
作者：
Renner, Agnes B.;Kellner, Ulrich;Foerster, Michael H.
目的：分析x连锁脉络膜血症的临床和电生理特征的变异性，并首次报道脉络膜血症的视网膜电图阴性。设计：回顾性研究。参与者：对18例男性脉络膜血症患者和8例女性携带者的记录进行评估。方法：根据国际临床视觉电生理学会（International Society for Clinical Electrophysiology of vision）的标准，对视力（VA）、色觉、视野、眼底自身荧光和全视场视网膜电图进行回顾性分析。主要观察指标：形态学和功能表型特征、眼底自身荧光、视网膜电图和Rab护送蛋白1 （REP-1）突变。结果：4个无亲缘关系的脉络膜血症家族（男性9例，携带者7例）和10个无亲缘关系个体（男性9例，携带者1例）。对2个家族和3名男性个体进行突变分析，除1名男性外，其余均发现REP-1突变。男性的年龄从5.9岁到63.0岁（平均33.9岁），VA从手部运动到1.0岁（中位数0.7岁）。眼底自身荧光（n = 7）显示所有男性视网膜色素上皮存在缺陷。视网膜电图（n = 13）在6名男性中几乎检测不到，在6名男性中减少，表明杆状锥体营养不良。另一名男性视网膜电图呈阴性，b: A波比为0.5。8名携带者（年龄4.8-56.8岁[平均24.0岁]）的视力从光觉到1.2（中位数1.0）不等。1名携带者出现光感，表现为脉络膜血症伴明显的脉络膜视网膜萎缩。在眼底自体荧光（n = 1）中可见明显的斑点状，在其他载体中可见色素点。7例中6例视网膜电图正常，表现携带者视网膜电图下降。男性和女性携带者均有色觉和视野缺陷。结论：脉络膜血症的表型具有高度变异性。除了先前报道的发现，我们观察到视网膜电图阴性，表明感受器后视网膜功能障碍，1名受影响的男性；1例重度脉络膜血症伴早期失明；大多数男性和携带者有色觉缺陷；眼底自身荧光的特征性改变。(c) 2006年由美国眼科学会颁发。
Purpose: To analyze the variability of clinical and electrophysiological characteristics in X-linked choroideremia and provide the first report of a negative electroretinogram in choroideremia.Design: Retrospective study.Participants: The records of 18 male patients with choroideremia and 8 female carriers were evaluated.Methods: The data were reviewed regarding visual acuity (VA), color vision, perimetry, fundus autofluorescence, and full-field electroretinography (according to standards of the International Society for Clinical Electrophysiology of Vision).Main Outcome Measures: Morphological and functional phenotype characteristics, fundus autofluorescence, electroretinography, and Rab escort protein 1 (REP-1) mutations.Results: Four unrelated families with choroideremia (9 affected males, 7 carriers) and 10 unrelated individuals (9 affected males, 1 carrier) were included. Mutational analysis, performed in 2 families and 3 individual males, revealed REP-1 mutations in all except 1 male. The age of the males ranged from 5.9 to 63.0 years (mean, 33.9), and VA ranged from hand movements to 1.0 (median, 0.7). Fundus autofluorescence (n = 7) showed defects in the retinal pigment epithelium in all males. Electroretinography (n = 13) was almost undetectable in 6 males and reduced in 6, indicating a rod-cone dystrophy. A further male showed a negative electroretinogram, with a b:a wave ratio of 0.5. Visual acuity of the 8 carriers (age, 4.8-56.8 years [mean, 24.0]) ranged from light perception to 1.2 (median, 1.0). Light perception was present in 1 carrier manifesting choroideremia with distinct chorioretinal atrophy. Pigmentary stippling, seen in the other carriers, was seen in fundus autofluorescence (n = 1) with a distinct speckled pattern. Electroretinograms were normal in 6 of 7 and reduced in the manifesting carrier. Defects in color vision and visual field were found in affected males and in the female carriers.Conclusions: The phenotype of choroideremia presents with high variability. In addition to the previously reported findings, we observed a negative electroretinogram, indicating a postreceptoral retinal dysfunction, in 1 affected male; severe course of choroideremia with early blindness in 1 manifesting carrier; color vision deficits in the majority of affected males and carriers; and characteristic alterations in fundus autofluorescence. (c) 2006 by the American Academy of Ophthalmology.