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  • Ocular manifestation of Marfan Syndrome

Ocular manifestation of Marfan Syndrome
Reviewed by Ivan Yip

1 August 2019 | Ivan Yip | EYE - Cataract, EYE - Refractive | Marfan syndrome, axial length, corneal curvature, ectopia lentis, visual acuity

This repeated cross-sectional study collected data in 2003-2004 and 2014-2015 to investigate changes in ocular features in Marfan syndrome (MFS) fulfilling the Ghent-2 criteria. Ghent-2 is a set of criteria by which MFS are identified and includes aortic root aneurysm / dissection and ectopia lentis (EL) as cardinal features. Other than EL, myopia >3 dioptres is the only other ocular feature included. Other features suggested as being related to MFS but not included in the Ghent criteria are increased risk of retinal detachment, early cataract, keratoconus and glaucoma. At baseline 84 patients were examined and 44 of these patients were examined after 10 years (mean age 50.1±11.9 years). At baseline 29 patients had EL. Two patients (three eyes, 13% risk) developed EL at follow-up. One eye progressed from subtle tilt to dislocation. Seven percent developed retinal detachment and 33% developed cataracts. There was no increase in axial length, corneal curvature or spherical equivalent. There was one case of glaucoma at baseline and no new cases. The study highlights that EL is usually diagnosed early in Marfans but can develop through life. Retinal detachment is a significant risk in these patients and there is a high risk of early cataracts. The study is limited due to Marfans being a rare condition and is unable to make associations with MFS and other conditions such as glaucoma and keratoconus.

Ten-year reinvestigation of ocular manifestations in Marfan Syndrome.
Sandvik G, Vanem T, Rand-Hendriksen S, et al.
CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY
2019;47:212-8.
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Ivan Yip

Alder Hey Children's Hospital, Liverpool, UK.

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