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Bilateral ectopia lentis and lens coloboma in a patient with Marfan syndrome

Poster Details

First Author: J.Costa PORTUGAL

Co Author(s):    R. Rothwell   R. Varandas                 

Abstract Details


Marfan syndrome is an autosomal dominant disorder of the connective tissue which primarily involves the ocular, skeletal and cardiovascular systems. The authors present a case of Marfan syndrome with bilateral ectopia lentis and lens coloboma.


Department of Ophthalmology, Centro Hospitalar de Vila Nova de Gaia/ Espinho, Portugal


A 18-year-old boy diagnosed with Marfan syndrome underwent the following tests: assessment of the visual acuity, intraocular pressure measurement ,refraction test, slit-lamp biomicroscopy and fundus examination. The patient was also submitted to a systemic evaluation.


The patient’s best corrected visual acuity was 8/10, with -1.75D of sphere, in the right eye and 6/10, with -3.75D of sphere and -5.75D of cylinder at 170º, in the left eye. Slit-lamp examination revealed a superiorly subluxated lens in both eyes, along with a notch and focal absence of zonules from 6 to 8 o'clock. Intraocular pressure was 16mmHg in right eye and 15mmHg in the left eye. Fundus examination was normal. On systemic evaluation, the patient presented arachnodactyly, pectus excavatum and dorsal scoliosis. Mild mitral regurgitation and ectasia of the aorta root was detected by echocardiography.


Ectopia lentis is the only cardinal ocular criteria for Marfan syndrome diagnosis, although other ocular manifestations may be present. The combination of bilateral ectopia lentis and lens coloboma is very rare, with only a few cases reported in the literature. In this case the lenticular colobomas were also unusual as they were bilateral and were not associated with iris, retinal, choroidal, macular or optic nerve colobomas. The asymmetry of refractive error between both eyes was probably caused by differences in lens position.

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