Article
Three cases of molecularly confirmed Knobloch syndrome.
Ophthalmic genetics - 1 Feb 2020
Balikova Irina, Sanak Nuri Serdal, Fanny Depasse, Smits Guillaume, Soblet Julie, de Baere Elfride, Cordonnier Monique
Abstract excerpt
Background: Knobloch syndrome (OMIM 267750) is a rare autosomal recessive disorder due to genetic defects in the COL18A1 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. High genetic and phenotypic variation has been reported in the...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.