Document Detail

A phenotypic variant of Knobloch syndrome.
MedLine Citation:
PMID:  18484314     Owner:  NLM     Status:  MEDLINE    
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.
Theresa Anne Williams; Graham R Kirkby; Denise Williams; John R Ainsworth
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Ophthalmic genetics     Volume:  29     ISSN:  1744-5094     ISO Abbreviation:  Ophthalmic Genet.     Publication Date:  2008 Jun 
Date Detail:
Created Date:  2008-05-19     Completed Date:  2008-07-08     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9436057     Medline TA:  Ophthalmic Genet     Country:  England    
Other Details:
Languages:  eng     Pagination:  85-6     Citation Subset:  IM    
Birmingham and Midland Eye Centre, City Hospital, Birmingham, England.
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MeSH Terms
Abnormalities, Multiple / genetics*
Collagen Type XVIII / genetics*
Encephalocele / genetics
Eye Diseases, Hereditary / genetics*
Genes, Recessive
Hair / abnormalities*
Kidney / abnormalities*
Mutation / genetics
Myopia / genetics*
Retinal Degeneration / genetics*
Retinal Detachment / genetics
Reg. No./Substance:
0/Collagen Type XVIII

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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