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Phenotype and genotype of patients with autosomal recessive bestrophinopathy

机译：常染色体隐性性甲鱼病患者的表型和基因型

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Purpose: To describe the phenotype and genotype of patients with autosomal recessive bestrophinopathy. Methodology: The phenotype of the subjects was described after a complete ophthalmological examination, and in various cases, ancillary testing of the visual field, optical coherent tomography, full field electroretinography and electrophysiology. Genetic analysis was carried out by screening the Bestrophin-1 (BEST1) gene for mutations by dideoxy sequencing and segregation analysis. Results: We identified three previously described mutations (Ala195Val, Leu191Pro and Arg141His) and two potentially pathogenic changes (Trp93Pro and Trp287Ter) in the Best-1 gene. Two patients carried compound heterozygous mutations, Trp93Pro/Ala195Val, and Leu191Pro/Trp287Ter. Two sisters were homozygous for an Arg141His mutation. All individuals with Best1 gene mutations had signs of maculopathy. Conclusions: Our observations expand the limited number of phenotypes associated with mutations in the Best1 gene. Patients with compound heteroyzygous Best1 mutations developed atypical forms of Best disease. Two siblings with homozygous Arg141His mutation developed symptoms of typical Best vitelliform dystrophy while their parents had clinical features of mild maculopathy.
机译：目的：描述常染色体隐性性甲鱼病患者的表型和基因型。方法：经过全面的眼科检查后描述了受试者的表型，在各种情况下，还对视野进行了辅助检查，光学相干断层扫描，全场视网膜电图和电生理检查。通过双脱氧测序和分离分析筛选Bestrophin-1（BEST1）基因的突变来进行遗传分析。结果：我们在Best-1基因中鉴定了三个先前描述的突变（Ala195Val，Leu191Pro和Arg141His）和两个潜在的致病性变化（Trp93Pro和Trp287Ter）。两名患者携带复合杂合突变，即Trp93Pro / Ala195Val和Leu191Pro / Trp287Ter。两姐妹的Arg141His突变为纯合子。具有Best1基因突变的所有个体都有黄斑病的迹象。结论：我们的观察扩大了与Best1基因突变相关的表型数量。具有复合杂合性Best1突变的患者出现非典型形式的Best疾病。具有纯合子Arg141His突变的两个兄弟姐妹表现出典型的最佳玻璃体型营养不良的症状，而其父母则具有轻度黄斑病的临床特征。

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