The mutations in type XVIII collagen result in a multitude of abnormalities in vision and eye structure, some of which include high myopia, vitreoretinal degeneration, retinal detachment, macular abnormalities, and occipital encephalocele. Additionally, fragile iris, overgrowth of blood vessels in the retina, and an excess of electron-dense deposits, which leads to a disease called dense deposit disease, may also occur in Knobloch syndrome.
Mutations in type XVIII collagen lead to various vision and eye abnormalities like high myopia, vitreoretinal degeneration, retinal detachment, macular issues, and occipital encephalocele. Furthermore, fragile iris, excessive blood vessel growth in the retina, and an accumulation of electron-dense deposits, which can cause dense deposit disease, may also be observed in Knobloch syndrome.