Loss of peripapillary sparing in non-group I Stargardt disease
Loss of peripapillary sparing in non-group I Stargardt disease
复制标题
DOI：
10.1016/j.exer.2010.07.018
复制
发表时间：
2010-11-01
影响因子：
3.4
通讯作者：
Tsang, Stephen H.
中科院分区：
文献类型：
--
作者：
Burke, Tomas R.;Allikmets, Rando;Tsang, Stephen H.
本研究的目的是评估非I组Stargardt病患者的乳头周围保留。我们认为这是一个有用的临床症状，制定疾病的严重程度。根据视网膜电图（ERG）对诊断为Stargardt病的患者进行分组。眼底自体荧光被用来评估参与Stargardt病过程的视乳头周围区域。在32例患者（64只眼）的队列中，17例患者（33只眼）表现出视乳头周围保留丧失。I组15例患者中的1例、II组7例患者中的6例和III组10例患者中的9例表现出视乳头周围萎缩。II组中有1例患者出现乳头周围肌松弛。所有患者都在ABCA4基因中检测到至少一种突变。在21例患者中检测到这两种突变。II组和III组患者发病年龄最早，视力最差。在ABCA 4基因中检测到两个新的致病突变。我们的数据支持以下观察结果：视乳头周围保留并非Stargardt病的普遍发现，视乳头周围萎缩是识别属于更严重ERG组（即II组和III组）的Stargardt病患者的有用临床体征。萎缩的存在表明第II组和第III组之间存在疾病的连续性。视乳头周围保留的丧失可能与ABCA 4基因的更有害的突变相关。(C)2010爱思唯尔有限公司版权所有。
The aim of this study was to assess peripapillary sparing in patients with non-group I Stargardt disease. We suggest this as a useful clinical sign for formulating disease severity. Patients with a diagnosis of Stargardt disease were grouped by electroretinogram (ERG). Fundus autofluorescence was used to assess the peripapillary area for involvement in the Stargardt disease process. From a cohort of 32 patients (64 eyes), 17 patients (33 eyes) demonstrated loss of peripapillary sparing. One of 15 patients in Group I, six of 7 patients in group II and 9 of 10 patients in group III demonstrated peripapillary atrophy. One patient in group II had peripapillary flecks. All patients had at least one mutation detected in the ABCA4 gene. Both mutations were detected in 21 patients. Patients in groups II and III had the earliest ages of onset and the poorest visual acuities. Two novel disease causing mutation in the ABCA4 gene were detected. Our data supports the observation that peripapillary sparing is not universal finding for Stargardt disease and peripapillary atrophy is a useful clinical sign for identifying patients with Stargardt disease who fall into the more severe ERG groups, i.e. groups II and III. The presence of atrophy suggests a continuum of disease between groups II and III. Loss of peripapillary sparing is likely associated with the more deleterious mutations of the ABCA4 gene. (C) 2010 Elsevier Ltd. All rights reserved.