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Knobloch syndrome

Other Names for this Disease
  • Myopia retinal detachment encephalocele
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Knobloch syndrome is characterized by severe nearsightedness (myopia), recurrent retinal detachment, and encephalocele. This condition has an autosomal recessive pattern of inheritance. There are three types of Knobloch syndrome, which can be distinguished by the underlying genetic cause. The condition is called Knobloch syndrome type I when it is caused by mutations in the COL18A1 gene. The genes associated with Knobloch syndrome type II and type III have not been identified; however, Knobloch syndrome type III has been linked to a specific region on chromosome 17, known as 17q11.2.[1]
Last updated: 4/5/2010


  1. Knobloch syndrome, type I. OMIM database. January 27, 2010; Accessed 4/5/2010.
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Basic Information

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Knobloch syndrome. Click on the link to view a sample search on this topic.