Classifying Ectopia Lentis in Marfan Syndrome Into Five Grades of Increasing Severity
- Conditions
- Ectopia LentisMarfan Syndrome
- Registration Number
- NCT04319107
- Lead Sponsor
- Hospices Civils de Lyon
- Brief 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.
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- COMPLETED
- Sex
- All
- Target Recruitment
- 110
- MFS patient, clinical diagnosis according to revised Ghent criteria, confirmed by FBN1 mutation.
- Relatives of MFS patients with none of the clinical features of MFS and in whom testing for the familial FBN1 mutation was negative.
- Patients who had surgery for ectopia lentis
- Patients for whom dilation was not optimal.
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method Ectopia lentis measurement day 0 Ectopia lentis measurement and classification into 5-stages. Evaluation of the predictive value of ectopia lentis, at early stages, in order to help characterize this major clinical diagnosis criteria.
- Secondary Outcome Measures
Name Time Method
Trial Locations
- Locations (1)
Hopital Femme Mère Enfant
🇫🇷Bron, France
Hopital Femme Mère Enfant🇫🇷Bron, France