Three cases of molecularly confirmed Knobloch syndrome.

Knobloch syndrome (OMIM 267750) is a rare autosomal recessive disorder due to genetic defects in the gene. The triad of high myopia, occipital defect, vitreoretinal degeneration has been described as pathognomonic for this condition. Patients with Knobloch syndrome have also extraocular problems as brain and kidney malformations.