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

Completed

• Conditions: Ectopia Lentis; Marfan Syndrome
• Interventions: Other: ophthalmological examinations using a slit lamp bio microscopy and a three-mirror lens, standard procedure.

• 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

Study Timeline

• Study Start: 2000-01-01
• Primary Completion: 2013-12-31
• Study Completion: 2013-12-31
• Status Verified: 2020-03
• Study First Submitted: 2020-03-20
• Study First Submitted QC: 2020-03-20
• Study First Posted: 2020-03-24
• Last Update Submitted: 2020-03-25
• Last Update Posted: 2020-03-27

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 110

Inclusion Criteria

• 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.

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Exclusion Criteria

• Patients who had surgery for ectopia lentis
• Patients for whom dilation was not optimal.

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Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Marfan Syndrome (MFS) patients	ophthalmological examinations using a slit lamp bio microscopy and a three-mirror lens, standard procedure.	Patients who had a clinical diagnosis of MFS according to the revised Ghent criteria (ectopia lentis was not taken into account for the diagnosis), confirmed by FBN1 sequencing.
Control patients	ophthalmological examinations using a slit lamp bio microscopy and a three-mirror lens, standard procedure.	Relatives of MFS patients with none of the clinical features of MFS and in whom testing for the familial FBN1 mutation was negative.

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.

Trial Locations

Locations (1)

Hopital Femme Mère Enfant; 🇫🇷 Bron, France