The ocular phenotype of stiff-skin syndrome

S Chamney, B Cartmill, O Earley, V McConnell, Colin Willoughby

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    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.
    Original languageEnglish
    Pages (from-to)156-159
    JournalEYE
    Volume30
    Issue number1
    DOIs
    Publication statusAccepted/In press - 8 May 2015

    Keywords

    • stiff skin syndrome
    • strabismus
    • genetics

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