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Classifying Ectopia Lentis in Marfan Syndrome Into Five Grades of Increasing Severity

Marfan Syndrome Clinical Trial

Official title:
Classifying Ectopia Lentis in Marfan Syndrome Into Five Grades of Increasing Severity

Clinical Trial Summary

Marfan syndrome is characterized by musculoskeletal manifestations, cardiovascular disease and ocular abnormalities, particularly ectopia lentis. Diagnosis depends on clinical evaluation, family history and molecular data: mutation in the fibrillin-1 gene (FBN1). Ectopia lentis is the most common ocular manifestation in Marfan syndrome with FBN1 mutation and is relatively specific to this disease when associated with other features. However, clinical examinations for identifying ectopia lentis have not really been codified. The purpose of this study is to describe a 5-grade classification of increasing severity for ectopia lentis based on clinical examination and to evaluate the predictive value for the early grades of ectopia lentis in order to help characterize this major clinical diagnosis criterion.

Clinical Trial Description

n/a

Study Design

Related Conditions & MeSH terms

Clinical Trial Details
NCT number NCT04319107
Study type Observational
Source Hospices Civils de Lyon
Contact
Status Completed
Phase
Start date January 1, 2000
Completion date December 31, 2013
View Details
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