Article
A phenotypic variant of Knobloch syndrome.
Ophthalmic genetics - 1 Jun 2008
Williams Theresa Anne, Kirkby Graham R, Williams Denise, Ainsworth John R
Abstract excerpt
Knobloch syndrome (KNO) is a rare autosomal recessive condition caused by pathogenic mutations in the COL18A1 gene. It is characterized by high myopia, vitreoretinal degeneration, retinal detachment and midline encephalocoele or midline occipital bone defect. We report a case of KNO confirmed by direct sequence analysis of the COL18A1 gene with typical ocular features, and previously unreported systemic features:...
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