Planned Preterm Delivery and Treatment of Severe Infantile FEVR With Osteoporosis-Pseudoglioma Syndrome

Autor:	Jared J, Ebert, Virginia M, Utz, M Elizabeth, Hartnett, Gregory, Tiao, Robert A, Sisk
Rok vydání:	2022
Předmět:	Retinal Diseases Pregnancy Familial Exudative Vitreoretinopathies Mutation Infant Newborn Retinal Detachment Humans Premature Birth Eye Diseases Hereditary Female Osteogenesis Imperfecta
Zdroj:	Ophthalmic Surgery, Lasers and Imaging Retina. 53:228-232
ISSN:	2325-8179 2325-8160
Popis:	Familial exudative vitreoretinopathy (FEVR) is a rare hereditary vitreoretinopathy resulting from mutations in the wnt signaling pathway leading to abnormalities in fetal retinal vasculogenesis, angiogenesis, and retinal vascular maintenance. Severe FEVR may result in congenital retinal detachment resembling Norrie disease. The authors report the first case of planned preterm delivery and treatment of a patient with severe FEVR from biallelic LRP5 mutations whose siblings had congenital tractional retinal detachments with light perception vision outcomes after conventional care. Early intervention allowed laser ablation of avascular retina and functional visual outcome despite a successfully repaired unilateral tractional retinal detachment. [ Ophthalmic Surg Lasers Imaging Retina . 2022;53(4):228–232.]
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa4f9a1e241bc2f770e1ac8db3f6a04d https://doi.org/10.3928/23258160-20220316-04 Zobrazit plný text záznamu