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.

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Key information

Conditions

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

Sex eligibility

All sexes

Study type

Observational

Primary location

Hopital Femme Mère Enfant

Bron, France

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

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.

Primary outcomes

Ectopia lentis measurement

Time frame: 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.

Sponsors and collaborators

Lead sponsor

Hospices Civils de Lyon

Other

Registry information

Important dates

Study start: 2000
Primary completion: 2013
Study completion: 2013
First posted: Mar 24, 2020
Registry last updated: Mar 27, 2020

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed