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

NCT04319107 | Completed

• 1 other identifier: MARFAN_2020
• Study Type: observational
• Target: 110
• Locations: 1 country
• Sites: 1

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.

Conditions

Marfan Syndrome; Ectopia Lentis

Outcome Measures

Primary Outcomes (1)

• 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

Study Arms (2)

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.

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.

Interventions

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

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; Marfan Syndrome (MFS) patients

Eligibility Criteria

• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

MFS patient or Relatives of MFS patients

You may qualify if:

• 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.

You may not qualify if:

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

Sponsors & Collaborators

• Hospices Civils de Lyon: lead

Study Sites (1)

Hopital Femme Mère Enfant

Bron, France

Location

Related Publications (1)

• 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.

  PMID: 32155956 BACKGROUND

MeSH Terms

Conditions

Marfan Syndrome; Ectopia Lentis

Condition Hierarchy (Ancestors)

Bone Diseases, Developmental; Bone Diseases; Musculoskeletal Diseases; Heart Defects, Congenital; Cardiovascular Abnormalities; Cardiovascular Diseases; Heart Diseases; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn; Connective Tissue Diseases; Skin and Connective Tissue Diseases; Eye Abnormalities; Eye Diseases; Lens Subluxation; Lens Diseases

Study Officials

• Audrey Putoux, MD

  Hospices Civils de Lyon

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 20, 2020
• First Posted: March 24, 2020
• Study Start: January 1, 2000
• Primary Completion: December 31, 2013
• Study Completion: December 31, 2013
• Last Updated: March 27, 2020

Record last verified: 2020-03

Locations

FR (1)