title: The ocular phenotype of stiff-skin syndrome.
abstract: PURPOSE Stiff skin syndrome (SSS; MIM#184900) is a rare autosomal dominantly inherited Mendelian disorder characterised by thickened and stone-hard indurations of the skin, mild hypertrichosis, and limitation of joint mobility with flexion contractures. It is autosomal dominant with high penetrance and results from mutations in the fibrillin 1 (FBN1; MIM*134797) gene. Here we present the associated ocular phenotype in a two generation nonconsanguineous Northern Irish family.METHODS The affected patients underwent complete ophthalmic and orthoptic assessment and genetic testing.RESULTS All three patients had ophthalmoplegia of varying degrees. Direct sequencing of the FBN1 gene detected a heterozygous pathogenic mutation (c.4710G>C; p.Trp1570Cys) in all affected patients.CONCLUSIONS This is the first report of ophthalmoplegia in association with SSS.
authors.affiliation: Department of Ophthalmology, Royal Victoria Hospital, Belfast, UK.
authors.forename: S
authors.initials: S
authors.lastname: Chamney
authors.affiliation: Department of Ophthalmology, Royal Victoria Hospital, Belfast, UK.
authors.forename: B
authors.initials: B
authors.lastname: Cartmill
authors.affiliation: Department of Ophthalmology, Mater Hospital, Belfast, UK.
authors.forename: O
authors.initials: O
authors.lastname: Earley
authors.affiliation: Northern Ireland Regional Genetics Department, Belfast City Hospital, Belfast Health & Social Care Trust, Belfast, UK.
authors.forename: V
authors.initials: V
authors.lastname: McConnell
authors.affiliation: Department of Eye and Vision Science, Institute of Ageing and Chronic Disease, University of Liverpool, Liverpool, UK.
authors.forename: C E
authors.initials: CE
authors.lastname: Willoughby
mesh_terms: D003286:Contracture / Q000175:diagnosis / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D000071838:Fibrillin-1; D000071837:Fibrillins; D006801:Humans; D008840:Microfilament Proteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D009886:Ophthalmoplegia / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D012873:Skin Diseases, Genetic / Q000175:diagnosis / Q000235:genetics*; D014792:Visual Acuity; D055815:Young Adult; D054392:Adipokines
chemical_list: D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines