FIBRILLIN GENE MUTATION--ECTOPIA &RETINAL TEAR DISORDER

$0M01FY2002RRNIH

Emory University, Atlanta GA

Investigators

Linked publications & trials

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Abstract

The purpose of the study is to genotype the fibrillin 15 gene in family members and determine whether the mutation segregates with ectopia lentis and/or retinal tear. Through a full Marfan clinical evaluation, we will determine whether isolated ectopia lentis and retinal tear pathology (as compared to the full Marfan syndrome) is associated with this specific mutation in fibrillin 15. Although there is no treatment arm to this research protocol, preventive and palliative therapy will benefit subjects found to have ocular, cardiac or skeletal pathology through clinical services.

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