Reported mutations in the POMGNT1 gene have enlightened its role in four genetic muscular dystrophy disease entities: 1) Walker–Warburg syndrome (OMIM #253280), 2) the muscle-eye-brain disease (OMIM #253280)—for which patients show ocular symptoms as retinal degeneration, optic atrophy and congenital glaucoma—3) congenital muscular dystrophy with mental retardation (OMIM #613151), and 4) retinitis pigmentosa (OMIM #606822) (Pihko et al., 1995; Yoshida et al., 2001; Godfrey et al., 2007; Clement et al., 2008; Wang et al., 2016; Xu et al., 2016). Here, POMGNT1 is linked to muscle-eye-brain disease.