[Clinical and genetic analysis of a child with Stargardt disease type 1 caused by novel compound heterozygous variants of the ABCA4 gene].

The novel compound heterozygous variants of the ABCA4 gene probably underlay the genetic etiology of Stargardt disease type 1 in this child. Above finding has expanded the mutational spectrum of the ABCA4 gene among the Chinese population and provided further evidence for understanding the genetic heterogeneity and genotype-phenotype correlation of the Stargardt disease.