EPOS
European Paediatric Ophthalmological Society
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29 Screening for ocular manifestations in marfan's syndrome families
Fahad, B.1, Lloyd, C.1, Black, G.2
Manchester Royal Eye Hospital, University Department of Molecular Genetics and Regional Genetics Service, St. Mary's Hospital
Purpose: Marfan syndrome (MFS OMIM#154700) is a common autosomal dominant connective tissue disorder with an incidence of 1:15,000 - 1:25,000 births. The condition is caused by mutations in the fibrillin 1 gene (FBN1 OMIM#134797) and shows highly variable expressivity. A positive diagnosis requires the presence of sufficient major features of the disorder in at least two categories (family history, cardiac, ocular, skeletal, pulmonary, spinal). Management protocols for those affected by Marfan's syndrome, as well as those of carrying the condition have not been exactly delineated. The aim of this study is to asses the value of ophthalmologic screening of all patients from families with Marfan's syndrome as well as those suspected Marfan's syndrome.
Methods: We present clinical findings in 57 children with true, or suspected, Marfan's syndrome. All were seen in the Paediatric Ophthalmology service of the Manchester Royal Eye Hospital from 1993 to 2001. All families with a clinical diagnosis passing through the genetic service at Saint Mary's Hospital are referred for ophthalmologic screening.
Results: We discuss the range of ocular manifestations observed, with familial and interfamilial phenotypic variability. Evolution of the clinical characteristics was determined by repeated evaluation of children with sporadic Marfan's syndrome, and those with a family history of the condition. In those with a family history, linkage studies enabled early diagnosis in children with familial Marfan's syndrome
Conclusion: These observations indicate the important role of the paediatric ophthalmologist in conjunction with the paediatric geneticist in the early diagnosis od familial Marfan's Syndrome, allowing appropriate follow up and preventive care.