Pathogenic variants in ADAMTS18 cause microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) [100] and Knobloch syndrome (high myopia, vitreoretinal degeneration, retinal detachment, cataract and occipital encephalocele) [101], but childhood glaucoma associated with microcornea has been reported in twins with compound heterozygous missense mutations of ADAMTS18 [c.3436C>T p.(Arg1146Trp) and c.1454T>G p.(Phe485Cys)] identified through panel testing [47]. This evidence concerns the gene ADAMTS18 and occipital encephalocele.