Knobloch syndrome is characterized by severe vision problems and skull defects.[12388] The most common features include extreme nearsightedness (high myopia), recurrent retinal detachment, and occipital encephalocele.[12388][2209] There are three types of Knobloch syndrome, which can be distinguished by the underlying genetic cause. Knobloch syndrome type I is caused by mutations in the COL18A1 gene. The genes associated with Knobloch syndrome type 2 and type 3 have not been identified; however, Knobloch syndrome type 3 has been linked to a specific region on chromosome 17, known as 17q11.2.[2209][2211] Knobloch syndrome follows an autosomal recessive pattern of inheritance.[12388][2209][2211] Treatment is aimed at addressing the symptoms present in each individual and may include surgery to repair retinal detachments and occiptal encephaloceles.[2211]
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