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

Civil Hospices of Lyon

Status: Completed

Conditions: Marfan Syndrome; Ectopia Lentis

Treatments: Other: ophthalmological examinations using a slit lamp bio microscopy and a three-mirror lens, standard procedure.

Study type: Observational

Funder types: Other

Identifiers

NCT04319107

MARFAN_2020

Details and patient eligibility

About

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.

Enrollment: 110 patients

Sex: All

Volunteers: Accepts Healthy Volunteers

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.

Exclusion criteria

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

Trial design

110 participants in 2 patient groups

Marfan Syndrome (MFS) patients

Description:

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.

Treatment:

Other: ophthalmological examinations using a slit lamp bio microscopy and a three-mirror lens, standard procedure.

Control patients

Description:

Relatives of MFS patients with none of the clinical features of MFS and in whom testing for the familial FBN1 mutation was negative.

Treatment:

Other: ophthalmological examinations using a slit lamp bio microscopy and a three-mirror lens, standard procedure.