Classifying Ectopia Lentis in Marfan Syndrome Into Five Grades of Increasing Severity
NCT04319107 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 110
Last updated 2020-03-27
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
Interventions
- 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.
Sponsors & Collaborators
-
Hospices Civils de Lyon
lead OTHER
Principal Investigators
-
Audrey Putoux, MD · Hospices Civils de Lyon
Eligibility
- Sex
- ALL
- Healthy Volunteers
- Yes
Timeline & Regulatory
- Start
- 2000-01-01
- Primary Completion
- 2013-12-31
- Completion
- 2013-12-31
Countries
- France
Study Locations
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