Knobloch Syndrome

Knobloch Syndrome

Knobloch syndrome is a rare genetic disorder characterised by severe vision problems, skull defects, and often brain abnormalities. Mutations in the COL18A1 gene cause Knobloch syndrome, leading to collagen XVIII deficiency. Patients with Knobloch syndrome may exhibit retinal detachment, occipital encephalocele, and developmental delays. Early diagnosis is crucial for effective management.