A Rare Vitreoretinal Degenerative Disorder: Goldmann–Favre Syndrome Complicated with Choroidal Neovascularization in a Pediatric Patient

Goldmann–Favre syndrome (GFS) is a rare vitreoretinal degenerative disorder caused by mutations in the NR2E3 gene located on the short arm of chromosome 15. This condition, inherited in an autosomal recessive manner, was first described by Favre in two siblings, with Ricci later confirming its hered...

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Bibliographic Details
Main Authors: Klaudia Szala, Bogumiła Wójcik-Niklewska
Format: Article
Language:English
Published: MDPI AG 2025-03-01
Series:Diagnostics
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Online Access:https://www.mdpi.com/2075-4418/15/5/622
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