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首页> 外文期刊>Ophthalmic genetics >Morphological and functional changes in multifocal vitelliform retinopathy and biallelic mutations in BEST1.
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Morphological and functional changes in multifocal vitelliform retinopathy and biallelic mutations in BEST1.

机译：在多焦点玻璃状视网膜病和BEST1中的双等位基因突变的形态和功能变化。

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PURPOSE: To describe morphological and functional changes in a single patient with multifocal Best vitelliform macular dystrophy (BVMD) and to perform a genotype/phenotype correlation. METHODS: The proband with multifocal BVMD and three of her family members were examined with electrooculography (EOG), full-field electroretinography (full-field ERG), multifocal electroretinography (mfERG) and optical coherence tomography (OCT). Genomic DNA was screened for mutation in the BEST1 gene by DNA sequencing analysis. RESULTS: The proband was observed regularly during a follow-up period of 4 years. Full-field ERG demonstrated reduced and delayed responses of both rods and cones. OCT demonstrated intra- and subretinal fluid which seemed to fluctuate with periods of stress, similar to that seen in chronic central serous chorioretinopathy. Two distinct heterozygous BEST1 mutations were identified in the proband, the recurrent p.R141H mutation and the p.P233A mutation. Heterozygous p.R141H mutations were also identified in two family members, while p.P233A was a de novo mutation. Abnormal EOG findings were observed in both the proband and in the carriers of p.R141H. Heterozygous carriers showed delayed implicit times in a- and b-waves of combined total rod and cone full-field ERG responses. CONCLUSIONS: The p.R141H mutation is frequently seen together with multifocal vitelliform retinopathy and biallelic mutations in BEST1. Our results show that carriers of the p.R141H mutation are clinically unaffected but present with abnormal EOG and full-field ERG findings. A patient with biallelic mutations of the BEST1 gene, causing multifocal BVMD with progressive, widespread functional disturbance of the retina, confirmed by full-field and mfERG is described.
机译：目的：描述多灶性最佳玻璃体黄斑营养不良（BVMD）的单例患者的形态和功能变化，并进行基因型/表型相关性。方法：对多灶性BVMD的先证者和她的三个家庭成员进行了眼电图（EOG），全场视网膜电图（全场ERG），多焦点视网膜电图（mfERG）和光学相干断层扫描（OCT）检查。通过DNA测序分析筛选基因组DNA中BEST1基因中的突变。结果：在为期4年的随访中定期观察到先证者。全场ERG证明了杆和锥的响应减少和延迟。 OCT显示，视网膜内和视网膜下液似乎随压力而波动，这与慢性中央性浆液性脉络膜视网膜病变相似。在先证者中鉴定出两个不同的杂合BEST1突变，即复发的p.R141H突变和p.P233A突变。在两个家族成员中还发现了杂合子p.R141H突变，而p.P233A是从头突变。在p.R141H的先证者和携带者中均观察到异常的EOG发现。杂合子携带者在组合的总杆和锥全场ERG反应的a波和b波中显示出延迟的隐式时间。结论：p.R141H突变与多灶性玻璃体样视网膜病变和BEST1中的双等位基因突变共同出现。我们的结果表明，p.R141H突变的携带者在临床上不受影响，但存在异常的EOG和全视野ERG发现。描述了一种具有BEST1基因的双等位基因突变的患者，该患者引起多灶性BVMD，并伴有进行性，广泛性的视网膜功能紊乱，已通过全视野和mfERG证实。

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