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. This evidence concerns the gene COL11A1 and Stickler syndrome.