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

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.

Study Overview

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

• Study Type: Observational
• Enrollment (Actual): 110

Contacts and Locations

Study Locations

• France
  • Bron, France
    • Hôpital Femme Mère Enfant

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: ADULT; OLDER_ADULT; CHILD
• Accepts Healthy Volunteers: Yes
• Genders Eligible for Study: All

• Sampling Method: Probability Sample

Study Population

MFS patient or Relatives of MFS patients

Description

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.

Study Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Marfan Syndrome (MFS) patients; 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.	Other: ophthalmological examinations using a slit lamp bio microscopy and a three-mirror lens, standard procedure.; Pupillary dilatation was performed with instillation of tropicamide and phenylephrine. The ophthalmological examination included visual acuity measurement, using a slit lamp biomicroscopy to analyse the anterior segment and a three mirror lens to appreciate the quality of the dilation validated by the absence of pupillary reflex and to search for ectopia lentis. Ectopia Lentis grade is evaluated according to the 5-grade classification.
Control patients; Relatives of MFS patients with none of the clinical features of MFS and in whom testing for the familial FBN1 mutation was negative.	Other: ophthalmological examinations using a slit lamp bio microscopy and a three-mirror lens, standard procedure.; Pupillary dilatation was performed with instillation of tropicamide and phenylephrine. The ophthalmological examination included visual acuity measurement, using a slit lamp biomicroscopy to analyse the anterior segment and a three mirror lens to appreciate the quality of the dilation validated by the absence of pupillary reflex and to search for ectopia lentis. Ectopia Lentis grade is evaluated according to the 5-grade classification.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Ectopia lentis measurement	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.	day 0

Collaborators and Investigators

• Sponsor: Hospices Civils de Lyon
• Investigators: Principal Investigator: Audrey Putoux, MD, Hospices Civils de Lyon

Publications and helpful links

General Publications

• Zech JC, Putoux A, Decullier E, Fargeton AE, Edery P, Plauchu H, Dupuis-Girod S. Classifying Ectopia Lentis in Marfan Syndrome into Five Grades of Increasing Severity. J Clin Med. 2020 Mar 6;9(3):721. doi: 10.3390/jcm9030721.

Study record dates

Study Major Dates

• Study Start (ACTUAL): January 1, 2000
• Primary Completion (ACTUAL): December 31, 2013
• Study Completion (ACTUAL): December 31, 2013

Study Registration Dates

• First Submitted: March 20, 2020
• First Submitted That Met QC Criteria: March 20, 2020
• First Posted (ACTUAL): March 24, 2020

Study Record Updates

• Last Update Posted (ACTUAL): March 27, 2020
• Last Update Submitted That Met QC Criteria: March 25, 2020
• Last Verified: March 1, 2020

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Pathologic Processes; Heart Diseases; Cardiovascular Diseases; Eye Diseases; Disease; Congenital Abnormalities; Eye Abnormalities; Genetic Diseases, Inborn; Musculoskeletal Diseases; Connective Tissue Diseases; Pathological Conditions, Anatomical; Bone Diseases; Lens Diseases; Heart Defects, Congenital; Cardiovascular Abnormalities; Musculoskeletal Abnormalities; Abnormalities, Multiple; Bone Diseases, Developmental; Limb Deformities, Congenital; Lens Subluxation; Syndrome; Marfan Syndrome; Arachnodactyly; Ectopia Lentis; Choristoma
• Other Study ID Numbers: MARFAN_2020

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: UNDECIDED

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No