The ocular phenotype of stiff-skin syndrome

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

    Research output: Contribution to journalArticle

    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.
    LanguageEnglish
    Pages156-159
    JournalEYE
    Volume30
    Issue number1
    DOIs
    Publication statusAccepted/In press - 8 May 2015

    Fingerprint

    Ophthalmoplegia
    Phenotype
    Orthoptics
    Hypertrichosis
    Mobility Limitation
    Mutation
    Penetrance
    Genetic Testing
    Contracture
    Genes
    Joints
    Skin
    Stiff Skin Syndrome
    Fibrillin-1

    Keywords

    • stiff skin syndrome
    • strabismus
    • genetics

    Cite this

    Chamney, S., Cartmill, B., Earley, O., McConnell, V., & Willoughby, C. (Accepted/In press). The ocular phenotype of stiff-skin syndrome. EYE, 30(1), 156-159. https://doi.org/10.1038/eye.2015.183
    Chamney, S ; Cartmill, B ; Earley, O ; McConnell, V ; Willoughby, Colin. / The ocular phenotype of stiff-skin syndrome. In: EYE. 2015 ; Vol. 30, No. 1. pp. 156-159.
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    Chamney, S, Cartmill, B, Earley, O, McConnell, V & Willoughby, C 2015, 'The ocular phenotype of stiff-skin syndrome', EYE, vol. 30, no. 1, pp. 156-159. https://doi.org/10.1038/eye.2015.183

    The ocular phenotype of stiff-skin syndrome. / Chamney, S; Cartmill, B; Earley, O; McConnell, V; Willoughby, Colin.

    In: EYE, Vol. 30, No. 1, 08.05.2015, p. 156-159.

    Research output: Contribution to journalArticle

    TY - JOUR

    T1 - The ocular phenotype of stiff-skin syndrome

    AU - Chamney, S

    AU - Cartmill, B

    AU - Earley, O

    AU - McConnell, V

    AU - Willoughby, Colin

    PY - 2015/5/8

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    N2 - 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.

    AB - 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.

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    KW - strabismus

    KW - genetics

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    Chamney S, Cartmill B, Earley O, McConnell V, Willoughby C. The ocular phenotype of stiff-skin syndrome. EYE. 2015 May 8;30(1):156-159. https://doi.org/10.1038/eye.2015.183