Targeted gene under study: RARB (OMIM: 615524)  Abstract RARB-related disorder, also known as MCOPS12, is caused by pathogenic variants in the RARB gene. RARB codes for retinoic acid receptor beta, a transcription factor belonging to the family of nuclear receptors. This condition is characterized by developmental eye defects (including microphthalmia and coloboma), other congenital anomalies (including diaphragmatic hernia and … Continue reading RARB Natural History Study