title: A phenotypic variant of Knobloch syndrome.
abstract: 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: occipital hair tuft with transient CSF leak and bilateral renal abnormalities. This case illustrates a new phenotypic variant of this syndrome.
authors.affiliation: Birmingham and Midland Eye Centre, City Hospital, Birmingham, England. tawilli40@hotmail.com
authors.forename: Theresa Anne
authors.initials: TA
authors.lastname: Williams
authors.forename: Graham R
authors.initials: GR
authors.lastname: Kirkby
authors.forename: Denise
authors.initials: D
authors.lastname: Williams
authors.forename: John R
authors.initials: JR
authors.lastname: Ainsworth
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D043170:Collagen Type XVIII / Q000235:genetics*; D004677:Encephalocele / Q000235:genetics; D015785:Eye Diseases, Hereditary / Q000235:genetics*; D005808:Genes, Recessive; D006197:Hair / Q000002:abnormalities*; D006801:Humans; D007223:Infant; D007668:Kidney / Q000002:abnormalities*; D008297:Male; D009154:Mutation / Q000235:genetics; D009216:Myopia / Q000235:genetics*; D010641:Phenotype; D012162:Retinal Degeneration / Q000235:genetics*; D012163:Retinal Detachment / Q000235:genetics; D013577:Syndrome
chemical_list: D043170:Collagen Type XVIII