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

2020-03-27 03:25:31 | BioPortfolio

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.

Study Design

Conditions

Marfan Syndrome

Intervention

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

Location

Hopital Femme Mère Enfant
Bron
France

Status

Completed

Source

Hospices Civils de Lyon

Results (where available)

View Results

Links

Published on BioPortfolio: 2020-03-27T03:25:31-0400

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Medical and Biotech [MESH] Definitions

A procedure that uses a SLIT LAMP to examine structures in the front of the EYE, such as the CONJUNCTIVA; CORNEA; IRIS; and AQUEOUS HUMOR.

A microscope with a light source that can be projected into a linear beam. It allows cross-sectional viewing of the AQUEOUS HUMOR; CONJUNCTEIVA; CORNEA; EYELIDS; IRIS; and lens (see LENS, EYE) of the eye.

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Microscopy in which the samples are first stained immunocytochemically and then examined using an electron microscope. Immunoelectron microscopy is used extensively in diagnostic virology as part of very sensitive immunoassays.

Scanning microscopy in which a very sharp probe is employed in close proximity to a surface, exploiting a particular surface-related property. When this property is local topography, the method is atomic force microscopy (MICROSCOPY, ATOMIC FORCE), and when it is local conductivity, the method is scanning tunneling microscopy (MICROSCOPY, SCANNING TUNNELING).

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