Pathogenic variants in COL11A1 have been linked to specific genetic disorders of the connective tissue, namely Marshall syndrome (27) and Stickler syndrome type 2 (28,29) and contribute to bilateral ophthalmological abnormalities, as well as systemic effects, such as a distinctive facial appearance, hearing loss, and joint problems (30) Typical ophthalmological findings include congenital high myopia, abnormal vitreous, glaucoma, retinal detachment, and cataracts. Here, COL11A1 is linked to Marshall syndrome.