Knobloch syndrome

Genetics

• autosomal recessive
• associated with defects in COL18A1 (type 1)

Clinical manifestations

• myopia
• vitreoretinal degeneration with retinal detachment
• macular abnormalities
  • occipital encephalocele

More general terms

• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/267750