Ophthalmic genetics · 2018
FEVR findings in patients with Loeys-Dietz syndrome type II.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Solinski Mark A, Blair Michael P, Dietz Harry, Mittelman David, Shapiro Michael J
Аннотация
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.
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.
Предметные рубрики MeSH
Aortic Aneurysm, ThoracicChildChild, PreschoolDNA Mutational AnalysisEye Diseases, HereditaryFamilial Exudative VitreoretinopathiesHumansLoeys-Dietz SyndromeMaleReceptor, Transforming Growth Factor-beta Type IIRetinal DetachmentRetinal DiseasesVisual AcuityVitrectomyVitreoretinopathy, ProliferativeVitreous Hemorrhage