PDF(Pubmed)
Abstract：
Macular dystrophies are a group of individually rare but collectively common inherited retinal dystrophies characterised by central vision loss and loss of visual acuity. Single molecule Molecular Inversion Probes (smMIPs) have proved effective in identifying genetic variants causing macular dystrophy. Here, a previously established smMIPs panel tailored for genes associated with macular diseases has been used to examine 57 UK macular dystrophy cases, achieving a high solve rate of 63.2% (36/57). Among 27 bi-allelic STGD1 cases, only three novel ABCA4 variants were identified, illustrating that the majority of ABCA4 variants in Caucasian STGD1 cases are currently known. We examined cases with ABCA4-associated disease in detail, comparing our results with a previously reported variant grading system, and found this model to be accurate and clinically useful. In this study, we showed that ABCA4-associated disease could be distinguished from other forms of macular dystrophy based on clinical evaluation in the majority of cases (34/36).
摘要：
黄斑营养不良是一组个别罕见但共同常见的遗传性视网膜营养不良，其特征是中心视力丧失和视敏度丧失。单分子分子反转探针（smMIP）已被证明可有效识别导致黄斑营养不良的遗传变异。这里,先前建立的针对黄斑疾病相关基因的smMIPs小组已用于检查57例英国黄斑营养不良病例，达到63.2%(36/57)的高溶解率。在27例双等位基因STGD1病例中，仅鉴定出三种新的ABCA4变体，说明目前已知白种人STGD1病例中的大多数ABCA4变体。我们详细检查了ABCA4相关疾病的病例，将我们的结果与以前报道的变异分级系统进行比较，并发现这个模型是准确的和临床上有用的。在这项研究中,我们发现,在大多数病例中,根据临床评估,ABCA4相关疾病可与其他形式的黄斑营养不良相区分(34/36).
