While recessive truncating variants in RARB were identified first in a family with four siblings affected with PDAC syndrome (pulmonary hypoplasia or agenesis, diaphragmatic hernia or eventration, A/M, and cardiac defects), all subsequent variants have exhibited a dominant mechanism with more variable nonocular anomalies termed Microphthalmia, syndromic 12 (MCOPS12; MIM 615524) [13, 14]. Here, RARB is linked to microphthalmia.