CLINICAL-GENETIC FEATURES OF THE KNOBLOCH SYNDROME IN THE RUSSIAN FAMILY

Abstract

The article presents the clinical and genetic characteristics of a patient with Knobloch syndrome caused by the previously indescried combination of mutations in the compound heterozygous state c.4054_4055delCT / c.1469-2A>G in the gene COL18A1. The peculiarity of the presented case is the absence of symptoms of central nervous system damage, found in most patients with this syndrome.

Keywords

syndrome Knobloch / myopia, dislocated lens / congenital cataract / retinal detachment / skull defects

References

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