ABCA4 and severe early-childhood-onset retinal dystrophy: Using whole exome sequencing combined with Sanger sequencing, the present study identified two novel potentially pathogenic variants in a compound heterozygous state, c.3607G>T (p.(Gly1203Trp)) and c.6722T>C (p.(Leu2241Pro)), in ABCA4 of a Han Chinese family affected by STGD1, and also described associated clinical phenotypes.