FEVR findings in patients with Loeys-Dietz syndrome type II

ABSTRACT

Background: Loeys-Dietz syndrome (LDS) is a connective tissue disorder that has phenotypic overlap with Marfan syndrome. In LDS, the aortic root dissections can be more aggressive and occur at a younger age than Marfan syndrome.

Materials and Methods: Review of two cases.

Results: A 7-year old boy with history of LDS was found to have a vitreous hemorrhage in the right eye. Further examination showed findings of Familial Exudative Vitreoretinopathy (FEVR). Both eyes were found to have peripheral non-perfusion and neovascularization. A non-related 25-month-old boy with no molecularly confirmed connective tissue disorder was found to have bilateral peripheral non-perfusion and bilateral tractional retinal detachments. The boy was clinically diagnosed with Larsen syndrome, Ehlers-Danlos syndrome kyphoscoliotic form, and Marfan syndrome before presentation. The FEVR lead to consideration of LDS that was molecularly confirmed. Consequently, he was monitored for aortic root dilation.

Conclusion: FEVR findings may lead to diagnosis of LDS and patients with LDS may present with proliferative retinopathy.

KEYWORDS:

• Loeys-Dietz syndrome
• Marfan syndrome
• retinal detachment
• transforming growth factor beta receptor II
• Retinal neovascularization
• Larsen syndrome
• Kyphoscoliotic Ehlers-Danlos syndrome
• LDS type II

Disclosure statement

The authors report no conflict of interest.