Ten-year reinvestigation of ocular manifestations in Marfan syndrome

Abstract

Importance: Long-term follow-up of Marfan syndrome (MFS) patients.

Background: Investigate changes in ocular features in MFS patients fulfilling the Ghent-2 criteria following a period of 10 years.

Design: Repeated cross-sectional study with two observations.

Participants: Eighty-four MFS patients were investigated in 2003-2004 (baseline). Forty-four of these patients (52%) were examined after 10 years.

Methods: A comprehensive ocular examination performed at baseline and follow-up.

Main outcome measures: Development or progression of ectopia lentis (EL).

Results: At follow-up, mean age was 50.1 ± 11.9 years (range: 30-80 years), 74% were female and 70% of the patients were diagnosed with EL compared to 66% at baseline. Two patients (3 eyes) had developed EL over the decade, representing a 13% risk. Furthermore, one eye had progressed from a subtle tilt of the lens to dislocation. We found no significant change in the axial length (P = 0.96), the corneal curvature (P = 0.64) or the spherical equivalent (P = 0.23). Best corrected visual acuity was improved at follow-up (P = 0.02). There were 7% and 33% risks for development of retinal detachment and cataract between baseline and follow-up, respectively.

Conclusions and relevance: Our study indicates that even though EL typically occurs at an early stage in most MFS patients, there is still a risk of developing EL in adulthood. The risk of developing vision-threatening complications such as retinal detachment and cataract was much higher than in the normal population, but even so, the visual potential of the MFS patients was relatively good.

Keywords: Marfan syndrome; axial length; corneal curvature; ectopia lentis; visual acuity.