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首页> 外文期刊>Ophthalmic Research: Journal for Research in Experimental and Clinical Ophthalmology >Unilateral vitelliform phenotype in autosomal recessive bestrophinopathy
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Unilateral vitelliform phenotype in autosomal recessive bestrophinopathy

机译：常染色体隐性骨质疏松症的单侧玻璃体表型

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Aims: It was the aim of this study to report on a patient in whom a novel mutation in the BEST1 gene was responsible for unilateral vitelliform phenotype in autosomal recessive bestrophinopathy (ARB). Methods: An 8-year-old young girl (proband) with unilateral vitelliform phenotype underwent a complete ophthalmologic examination at baseline (time of diagnosis) and 2 years later. Genomic DNA was extracted to look for BEST1 gene mutations in the patient and her parents. Results: Fundus autofluorescence imaging and spectral-domain optical coherence tomography showed unchanged findings in the right eye over the 2-year follow-up period. Conversely, both fundus autofluorescence imaging and spectral-domain optical coherence tomography showed a partial reabsorption of the hyper-autofluorescent/hyper-reflective subretinal material in the left macula over the 2-year follow-up period. On BEST1 gene analysis, the patient presented a novel mutation c.535-537delAAC (p.Asn179del) in homozygous condition; interestingly, despite the absence of parents' consanguinity, both the father and mother showed the same novel mutation in heterozygous condition. Conclusion: This case of unilateral vitelliform phenotype further supports the notion that ARB represents a disease spectrum in terms of severity, age at onset and heritability.
机译：目的：本研究的目的是报告一名患者，该患者的BEST1基因新突变与常染色体隐性性甲鱼病（ARB）的单侧玻璃体表型有关。方法：一个单侧玻璃体表型的8岁女孩（先证者）在基线（诊断时间）和2年后接受了全面的眼科检查。提取基因组DNA以寻找患者及其父母的BEST1基因突变。结果：在两年的随访期间，眼底自发荧光成像和光谱域光学相干断层扫描在右眼中未发现任何改变。相反，眼底自体荧光成像和光谱域光学相干断层扫描均显示了在两年的随访期内左黄斑区的自体荧光/超反射性视网膜下材料的部分重吸收。在BEST1基因分析中，该患者在纯合状态下出现了一个新的突变c.535-537delAAC（p.Asn179del）。有趣的是，尽管没有父母的血缘关系，父亲和母亲在杂合情况下都表现出相同的新突变。结论：这种单侧的玻璃状表型病例进一步支持了这样的观点，即ARB代表严重程度，发病年龄和遗传力方面的疾病谱。

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