In addition, we found that heterozygous mutations of RP1L1 c.133 C > T (p.Arg45Trp) and ABCA4 c.6119 G > A (p.Arg2040Gln) are likely responsible for OMD; this OMD genetic mutation pattern is novel, and the functions and interactions of RP1L1 and ABCA4 should be further investigated. The gene discussed is ABCA4; the disease is occult macular dystrophy.