Phenotype-genotype correlation with Sanger sequencing identified retinol dehydrogenase 12 ( RDH12) compound heterozygous variants in a Chinese family with Leber congenital amaurosis临床表型-基因型关联发现Leber先天性黑矇(LCA)家系新的 RDH12基因复合杂合突变

Leber congenital amaurosis (LCA) is a group of clinically and genetically heterogeneous retinal dystrophy. To date, 22 genes are known to be responsible for LCA, and some specific phenotypic features could provide significant prognostic information for a potential genetic etiology. This study is to identify gene variants responsible for LCA in a Chinese family using direct Sanger sequencing, with the help of phenotype-genotype correlations.