FEVR findings in patients with Loeys-Dietz syndrome type II.

Autor: Solinski MA; a Retinal Consultants , Des Plaines , IL , USA., Blair MP; a Retinal Consultants , Des Plaines , IL , USA.; b Department of Ophthalmology and Visual Sciences , University of Illinois at Chicago , Chicago , IL , USA.; c Department of Ophthalmology and Visual Sciences , University of Chicago , Chicago , IL , USA., Dietz H; d Howard Hughes Medical Institute and The McKusick-Nathans Institute of Genetic Medicine , Johns Hopkins University School of Medicine , Baltimore , MD , USA.; e Division of Pediatric Cardiology, Department of Pediatrics , Johns Hopkins University School of Medicine , Baltimore , MD , USA.; f Department of Medicine , Johns Hopkins University School of Medicine , Baltimore , MD , USA., Mittelman D; g Advocate Lutheran General Hospital , Park Ridge , IL , USA., Shapiro MJ; a Retinal Consultants , Des Plaines , IL , USA.; b Department of Ophthalmology and Visual Sciences , University of Illinois at Chicago , Chicago , IL , USA.
Jazyk: angličtina
Zdroj: Ophthalmic genetics [Ophthalmic Genet] 2018 Dec; Vol. 39 (6), pp. 754-758. Date of Electronic Publication: 2018 Nov 08.
DOI: 10.1080/13816810.2018.1532526
Abstrakt: 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.
Databáze: MEDLINE
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