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M. De Saint Jean, D. Bogotean, C. Boileau, B. Chevallier, G. Jondeau, J. Le Parc, B. Moura, C. Muti, C. Baudouin; Marfan Syndrome Diagnosis by Ophthalmologist. Predictive Value of Ectopia Lentis in a Genotyped Population . Invest. Ophthalmol. Vis. Sci. 2003;44(13):813.
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Purpose: Marfan syndrome (MFS) is a polymorphic disease, with highly variable clinical manifestations and the diagnosis of which remains difficult in the absence of gold standard. The aim of this work was to define a predictive value of ectopia lentis in a genotyped population. Methods: We examined a population of 198 patients from MFS families with a definitive genetic diagnosis by the way of conclusive genetic linkage analysis of fibrillin-1 gene within each family. We defined two subgroups of genetically affected (n=126) and non-affected patients (n=72). Ectopia lentis was qualified as absent (=0), mild (<1mm, detected as a visibility of inferior zonules or of lens inferior edge); moderate (=1mm) or severe (>1mm) and the prevalence of each subtype was calculated in the two groups of patients. We studied the sensitivity, the specificity, the likelihood ratio for a positive test (LR+) and the predictive positive value (PPV) of ectopia lentis in this population of patients. Results: In genetically affected patients, the prevalences of mild, moderate or severe ectopia were respectively of 18%, 9% and 32% whereas 42% of patients in this group did not present any lens anomalies. 3% of genetically non-affected patients had ectopia <1mm, 2% had ectopia >1mm and 95% of them had no anomalies of lens position. LR+ for moderate to severe ectopia (equal or superior to 1mm) was 20 (p<0.001), whereas LR+ for ectopia<1mm was 6 (p<0.05). PPV of ectopia equal or superior to 1mm was of 96% whereas PPV of ectopia<1mm was of 87%. Conclusions: The presence of ectopia lentis equal or superior to 1mm is of high predictive value for diagnosis of Marfan syndrome. However, the visibility of inferior zonules or of lens inferior edge should be also considered in favor of presence of fibrillin-1 gene mutation.
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