Mutations in PATL2 lead to oocyte meiosis defects by directly binding to and stabilizing CDC23, and indirectly affecting the accumulation and translation of mRNAs related to cell cycle regulation, including CCNB1, CDC23, APC1 and MAD2L1. This study provides new insights into the molecular mechanisms of OMD caused by PATL2 deficiency. This evidence concerns the gene MAD2L1 and occult macular dystrophy.