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Selective Ablation of Megalin in the Retinal Pigment Epithelium Results in Megaophthalmos, Macromelanosome Formation and Severe Retina Degeneration

PURPOSE: Mutations in the megalin-encoding gene, LRP2, cause high myopia as seen in patients suffering from Donnai-Barrow/facio-oculo-acoustico-renal syndrome. Megalin is present in both the nonpigmented epithelium of the ciliary body and in the RPE. In this study, we set out to establish an animal...

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Detalles Bibliográficos
Autores principales: Storm, Tina, Burgoyne, Thomas, Dunaief, Joshua L., Christensen, Erik I., Futter, Clare, Nielsen, Rikke
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Association for Research in Vision and Ophthalmology 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6343679/
https://www.ncbi.nlm.nih.gov/pubmed/30665232
http://dx.doi.org/10.1167/iovs.18-25667