The early onset and rapidly progressing vision loss (with light perception in the left eye and no light perception in the right eye), which is incompatible with USH2C, may be explained by an additional homozygous variant c.4919G>A p.(Arg1640Gln) in ABCA4 (Table 1), which causes Stargardt disease (Simonelli et al. 2000). This evidence concerns the gene ABCA4 and Stargardt disease.