Is ectopia lentis in some cases a mild phenotypic expression ofMarfan syndrome? Need for a long-term follow-up

[摘要] Purpose: Ectopia lentis (EL) and Marfan syndrome (MFS) areconsidered two distinct clinical entities. We performed genetic andclinical studies to investigate whether EL is actually distinct from MFSor if it is a mild phenotypic expression of it.Methods: Seven patients with EL were followed for 5-10 years.Mutation screening analysis of the 65 exons of FBN1 was performed bypolymerase chain reaction (PCR) amplification of genomic DNA, denaturinghigh pressure liquid chromatography analysis, and direct sequencing ofheteroduplexes.Results: Yearly examinations during the 10 years of follow-upallowed the detection of a late onset of dural ectasia in six out ofseven patients (age range: 32-64 years versus 8-55 years in MFSpreviously reported). We also detected the onset of mild thoracic aorticdilatation in a sporadic case (age 45). Six out of seven index cases ofEL turned out to be mild forms of Marfan syndrome with possible latecardiovascular involvement as detected in one case. Four novel missensemutations and one known splicing mutation were detected in five out ofseven (71%) patients. Their localization confirmed the presence of afirst hot spot within exons 1-15 and suggested the presence of a secondone between exons 31-39.Conclusions: The presence of a second major criterion in six ELpatients shifted the clinical diagnosis from EL to MFS. These datademonstrate that some cases, which are initially diagnosed as EL, turnout to be mild Marfan patients. A clinical cardiovascular follow-up istherefore highly recommended for all EL patients since they may developthoracic aortic aneurysm (TAA) or dissection later in life. Alsomagnetic resonance imaging (MRI) for dural ectasia (DE) should beperformed in a complete follow up for a MFS diagnosis.

[学科分类] 生物化学/生物物理