Detailed Functional and Structural Phenotype of Bietti Crystalline Dystrophy Associated with Mutations in CYP4V2 Complicated by Choroidal Neovascularization

PURPOSE: To describe in detail the phenotype of a patient with Bietti crystalline dystrophy (BCD) complicated by choroidal neovascularization (CNV) and the response to intravitreal Bevacizumab (Avastin ®; Genentech/Roche). METHODS: A 34-year-old woman with BCD and mutations in CYP4V2 (c.802-8_806del...

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Vydáno v:Ophthalmic Genet
Hlavní autoři: Fuerst, Nicole M., Serrano, Leona, Han, Grace, Morgan, Jessica I. W., Maguire, Albert M., Leroy, Bart P., Kim, Benjamin J., Aleman, Tomas S.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2016
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5149010/
https://ncbi.nlm.nih.gov/pubmed/27028354
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3109/13816810.2015.1126616
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