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

Familial exudative vitreoretinopathy (FEVR) is a rare hereditary vitreoretinopathy resulting from mutations in the signaling pathway leading to abnormalities in fetal retinal vasculogenesis, angiogenesis, and retinal vascular maintenance. Severe FEVR may result in congenital retinal detachment resem...

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Bibliographic Details
Published in:	Ophthalmic surgery, lasers & imaging retina Vol. 53; no. 4; p. 228
Main Authors:	Ebert, Jared J, Utz, Virginia M, Hartnett, M Elizabeth, Tiao, Gregory, Sisk, Robert A
Format:	Journal Article
Language:	English
Published:	United States 01-04-2022
Subjects:	Eye Diseases, Hereditary - genetics Familial Exudative Vitreoretinopathies Female Humans Infant, Newborn Mutation Osteogenesis Imperfecta Pregnancy Premature Birth Retinal Detachment - surgery Retinal Diseases - genetics
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Summary:	Familial exudative vitreoretinopathy (FEVR) is a rare hereditary vitreoretinopathy resulting from mutations in the 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 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. .
ISSN:	2325-8179
DOI:	10.3928/23258160-20220316-04