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Marfan syndrome diagnosed because of unilateral refractive change

Poster Details

First Author: M.Perez Gancedo SPAIN

Co Author(s):    M. Perez Gancedo   M. Hernandez Carranza   C. De Diego Boguna   M. Jimenez Escribano   P. Moreiras Piastrelini   V. Hernandez Ortega     

Abstract Details


To report the case of a mild-aged woman with visual declining and refractive change caused by unilateral ectopia lentis that let the diagnosis of Marfan’s Syndrome in her family and the finding of a new fibrillin 1 gene(FBN1) mutation.


Corneal and Cataract Unit, Ophthalmology Service. Complejo Hospitalario de Toledo, Castilla la Mancha, Spain.


A 52 years old woman who complained of a gradual visual declining and a refractive change in her right eye. Her medical history was limited to Thyroid disorder and as a family antecedents to a brother with an Aortic aneurysm, another one with aortic dissection and several relatives with early unilateral cataracts. At presentation visual acuity was 0.5 with pinhole occluder and slight more narrow anterior chamber (upper) in her right eye. Pentacam showed inferotemporal ectopia lentis only in that eye. In this context we began genetic study to rule out Marfan syndrome and schedule lens surgery.


The genetic study made by amplification of the exon 31 of the FBN1 by PCR study was positive to a new mutation c. 3902G>A (pGly 1301Asp) in heterozygous upon FBN1, the consecutive study of the family has identified 5 more persons with this mutation including our patient between 13 relatives studied. No one else had ectopia lentis.


The unilateral change of the refraction and an asymmetric anterior chamber can be signs of ectopia lentis. Ectopia lentis is the only cardinal ocular criterion of Marfan syndrome according to revised Ghent Nosology, being usually superotemporal, bilateral, symmetric and stable but it could be unilateral and in other direction as in the case reported. The correct diagnosis is very important because it leads to a good surgical management, prevention of life threatening pathology and genetic counseling.

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