The ocular phenotype of stiff-skin syndrome

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

Research output: Contribution to journalArticlepeer-review

6 Citations (Scopus)
54 Downloads (Pure)

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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