A phenotypic variant of Knobloch syndrome.
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.
Williams
Theresa Anne
TA
Birmingham and Midland Eye Centre, City Hospital, Birmingham, England. tawilli40@hotmail.com
Kirkby
Graham R
GR
Williams
Denise
D
Ainsworth
John R
JR
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
D043170:Collagen Type XVIII