Knobloch syndrome is a rare genetic disorder presenting severe eyesight problems and often a defect in the skull.
[3] A usual occurrence is a degeneration of the vitreous humour and the retina, two components of the eye.
[4] The limited evidence available from electroretinography suggests that a cone-rod pattern of dysfunction is also a feature.
[5] Knobloch syndrome is caused by mutations in an autosomal recessive inherited gene.
These mutations have been found in the COL18A1 gene that instructs for the formation of a protein that builds collagen XVIII.