FEVR findings in patients with Loeys-Dietz syndrome type II

• Published in: Ophthalmic genetics Vol. 39; no. 6; pp. 754 - 758
• Main Authors: Solinski, Mark A, Blair, Michael P, Dietz, Harry, Mittelman, David, Shapiro, Michael J
• Format: Journal Article
• Language: English
• Published: England 02.11.2018
• Subjects: Loeys-Dietz syndrome; Kyphoscoliotic Ehlers-Danlos syndrome; transforming growth factor beta receptor II; LDS type II; Retinal neovascularization; Larsen syndrome; retinal detachment; Marfan syndrome
• ISSN: 1381-6810; 1744-5094
• DOI: 10.1080/13816810.2018.1532526

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. Review of two cases. 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. FEVR findings may lead to diagnosis of LDS and patients with LDS may present with proliferative retinopathy.