Marfan Syndrome with Ectopia Lentis
A young child presented to the ophthalmology clinic with blurry vision. Slit lamp examination was notable for superotemporally subluxed lenses in both eyes, along with a tall slender body frame. Due to these findings, the patient was referred to a geneticist and testing was done which ultimately came back positive for a diagnosis of Marfan syndrome given a FBN-1 mutation, positive skeletal findings, as well as dilation of her aorta and clinical ectopia lentis. Vision at this time was roughly 20/250 OU. She was trialed on alternate eye patching as well as refractive correction to prevent amblyopia; however the degree of her subluxation and lack of ability to fully correct vision led to surgical referral. The patient was ultimately referred for PPV/PPL with subsequent aphakic refraction. Surgeries went smoothly in both eyes and on follow up 1 year later the patient’s vision was 20/20 corrected. The patient remains stable on follow up. This case shows how Marfan syndrome can present, how to manage ectopia lentis, and how early management in children can lead to amblyopia reversal.
Presentation Date: 02/23/2023
Issue Date: 03/10/2023
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