The ocular phenotype of stiff-skin syndrome
| Autor: | O Earley, Colin E. Willoughby, Sarah Chamney, B Cartmill, Vivienne McConnell |
|---|---|
| Rok vydání: | 2014 |
| Předmět: |
musculoskeletal diseases
Hypertrichosis congenital hereditary and neonatal diseases and abnormalities Pathology medicine.medical_specialty Contracture Fibrillin-1 DNA Mutational Analysis Visual Acuity Fibrillins Ophthalmic pathology Ocular Motility Disorders 030207 dermatology & venereal diseases 03 medical and health sciences Young Adult 0302 clinical medicine medicine Humans Case Series 030203 arthritis & rheumatology Ophthalmoplegia business.industry Microfilament Proteins Skin Diseases Genetic Middle Aged medicine.disease Stiff skin syndrome Pedigree SSS Ophthalmology Phenotype Mutation Female medicine.symptom business Orthoptic Fibrillin |
| Zdroj: | Eye (London, England). 30(1) |
| ISSN: | 1476-5454 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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