IRX1 and North Carolina macular dystrophy: Notably, out of the 5 identified SVs, one corresponds to the known shared duplicated region downstream of IRX1, located within the NCMD-linked MCDR3 locus [MIM: 608850]; in particular, this duplication, identified in 8 affected individuals of 4 different families segregating macular defects consistent with NCMD, involves a UCNE (IRXA_Aladdin) exhibiting chromatin accessibility in developing horizontal cells.