COL25A1 and congenital fibrosis of the extraocular muscles: At present, five recessive pathogenic variants in COL25A1 have been identified in families with CFEOM-5, including three missense mutations (c.1144G > A, c.1450A > G, and c.1198G > A) and two compound heterozygous mutations (c.672 + 1del plus c.672 + 1G > A, and c.1489G > T plus the deletion of chromosome 4: 109,852,901–109,976,457) [65,66,67].