Bilateral Ectopia Lentis Revealing Marfan Syndrome

To report a case of Marfan syndrome which was revealed by poor vision signs linked to bilateral ectopia lentis.

Ophthalmology department, University Military Hospital of Ouargla, Algeria.

We report the case of a 4-year-old boy, whose parents report symptoms suggestive of probable low vision. No other abnormalities were noticed by the parents and family history was unremarkable.

On ophthalmic examination, the child did not cooperate for visual acuity and the results of autorefractometry are very fluctuating between different measures. Biomicroscopy of the anterior segment reveals a symmetrical supero-nasal displacement of the two crystalline lenses (which remain transparent), with an an aphakic crescent clearly visible even in semi-mydriase or myosis. The zonular fibers are stretched and rarefied. Fundus examination was unremarkable. General examination revealed arachnodactyly with a positive thumb sign and height was significantly above average for age and gender. The child also underwent a cardiac ultrasound which revealed mitral valve prolapse, pulmonary arterial hypertension and dilation of ascending aorta. It was not possible for us to perform a genetic analysis, but we were able to establish the diagnosis of Marfan syndrome in the presence of aortic dilatation and ectopia lentis, according to the revised Ghent criteria.

The surgical indication was established and we performed phacoaspiration with removal of the capsule bag through a small corneal incision for both eyes, a few days apart. To correct aphakia, we first opted for glasses.

Management of the cardiac anomaly consisted of medical treatment based on beta-blockers and ACE inhibitors.

Described by a French paediatrician in 1896, Marfan syndrome (MS) is a rare genetic disease often due to a mutation in the type 1 fibrillin gene, which is a ubiquitous protein and an essential component of the lens zonules. At least 50% of patients with Marfan syndrome exhibit ectopia lentis. The lens subluxation tends to be bilateral and symmetric (usually superior and temporal), but variations do occur as in the case of our patient.

For an appropriate approach, it is always necessary to search for the etiology of any lens displacement. According to the criteria of Ghent , ectopia lentis is sufficient to make the diagnosis of Marfan syndrome when there is a family history. MS is a concrete example of the multidisciplinary approach