Retinitis pigmentosa associated with a mutation in BEST1.
Retinitis pigmentosa associated with a mutation in BEST1.
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DOI：
10.1016/j.ajoc.2016.03.005
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发表时间：
2016-07
影响因子：
--
通讯作者：
Marmorstein AD
中科院分区：
文献类型：
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作者：
Dalvin LA;Abou Chehade JE;Chiang J;Fuchs J;Iezzi R;Marmorstein AD
只有一个先前的报道将BEST1突变与视网膜色素变性（RP）的诊断联系起来。该报告中的影像学研究更不典型RP，并具有常染色体隐性视网膜病和常染色体显性玻璃体视网膜脉络膜病的共同特征。在这里，我们提出了一个患者的临床表型与RP的经典特征一致。本报告中的患者根据临床明显的骨刺和特征性的ERG和EOG结果被诊断为单纯性RP。患者伴有大量囊样黄斑水肿，经短期口服乙酰唑胺后消退。基因检测显示，患者携带一种新的杂合缺失突变的BEST1，不携带双亲。虽然这表明BEST1是致病的，但患者也遗传了其他已知导致隐性视网膜退行性疾病的基因的几种突变的杂合拷贝。目前尚不清楚BEST1的一些突变如何与周围视网膜变性表型相关，而其他突变如何表现为黄斑变性表型。我们推测，由BEST1突变引起的RP需要其他修饰基因的突变。
There is only one prior report associating mutations in BEST1 with a diagnosis of retinitis pigmentosa (RP). The imaging studies presented in that report were more atypical of RP and shared features of autosomal recessive bestrophinopathy and autosomal dominant vitreoretinochoroidopathy. Here, we present a patient with a clinical phenotype consistent with classic features of RP. The patient in this report was diagnosed with simplex RP based on clinically-evident bone spicules with characteristic ERG and EOG findings. The patient had associated massive cystoid macular edema which resolved following a short course of oral acetazolamide. Genetic testing revealed that the patient carries a novel heterozygous deletion mutation in BEST1 which is not carried by either parent. While this suggests BEST1 is causative, the patient also inherited heterozygous copies of several mutations in other genes known to cause recessive retinal degenerative disease. How some mutations in BEST1 associate with peripheral retinal degeneration phenotypes, while others manifest as macular degeneration phenotypes is currently unknown. We speculate that RP due to BEST1 mutation requires mutations in other modifier genes.