Homo sapiens

Inherited retinal degenerations (IRDs) are a group of phenotypically and genotypically heterogeneous disorders with substantial socioeconomic impact. Capture-based target enrichment followed by next generation sequencing of the probands was used for searching potentially disease-causing variant.遗传性视网膜变性（Inherited retinal degenerations, IRDs）是一类表型与基因型均具有异质性的疾病，具有显著的社会经济影响。本研究通过对先证者实施基于捕获的靶向富集，随后开展下一代测序，以此筛查潜在的致病变异。