期刊
OPHTHALMIC GENETICS
卷 28, 期 3, 页码 163-168出版社
TAYLOR & FRANCIS INC
DOI: 10.1080/13816810701537440
关键词
Bardet-Biedl syndrome; carriers; multifocal electroretinography
资金
- NEI NIH HHS [EY01792] Funding Source: Medline
- NATIONAL EYE INSTITUTE [P30EY001792] Funding Source: NIH RePORTER
Purpose: To determine whether retinal dysfunction in obligate carriers of the Bardet-Biedl syndrome (BBS) could be observed in local electroretinographic responses obtained with the multifocal electroretinogram (mfERG). Methods: Six obligate carriers of the BBS were examined for the study. Examination of each carrier included an ocular examination and mfERG testing of one eye. For the mfERG, we used a 103-scaled hexagonal stimulus array that subtended a retinal area of approximately 40. in diameter. The amplitudes and implicit times in each location for the mfERG were compared with the corresponding values determined for a group of 34 normally sighted, age-similar control subjects. Results: Mapping of 103 local electroretinographic response amplitudes within a central 40. area with the mfERG showed regions of reduced mfERG amplitudes in three of six carriers. Implicit time measurements in the 6 carriers were all normal except for those locations associated with abnormal amplitude reductions in 3 of the carriers. When present, retinal dysfunction was evident in the presence of a normal-appearing fundus. Conclusions: Multifocal ERG testing can demonstrate areas of retinal dysfunction in carriers of the BBS. This test may therefore be useful for identifying some heterozygous carriers of this disease.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据