In one proband (proband 079830) with a central areolar choroidal dystrophy (CACD) diagnosis, we identified compound heterozygous variants in ROM1—c.339dupG; p.(Leu114Alafs*18) and c.712del; p.(Leu238Cysfs*78)—both of which result in a frameshift. This evidence concerns the gene ROM1 and central areolar choroidal dystrophy.