Leeds Institute of Medical Research, University of Leeds, St James's University Hospital, Leeds LS9 7TF, UK.
Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
Genes (Basel). 2023 Jan 11;14(1):191. doi: 10.3390/genes14010191.
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 variants were identified, illustrating that the majority of variants in Caucasian STGD1 cases are currently known. We examined cases with -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 -associated disease could be distinguished from other forms of macular dystrophy based on clinical evaluation in the majority of cases (34/36).
黄斑营养不良是一组罕见但又常见的遗传性视网膜疾病，其特征是中心视力丧失和视力下降。单分子分子反转探针 (smMIPs) 已被证明可有效识别导致黄斑营养不良的遗传变异。在这里，我们使用了一个先前建立的针对与黄斑疾病相关基因的 smMIPs 小组，对 57 例英国黄斑营养不良病例进行了检测，其解决率高达 63.2%（36/57）。在 27 例双等位基因 STGD1 病例中，仅鉴定出 3 个新的变异，这表明在白种人 STGD1 病例中，大多数变异目前已经知晓。我们详细检查了与相关疾病的病例，将我们的结果与先前报道的变异分级系统进行了比较，发现该模型准确且在临床上有用。在这项研究中，我们表明在大多数情况下（34/36），基于临床评估可以区分与疾病相关的疾病和其他形式的黄斑营养不良。
