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Multimodal Retinal Imaging and Microperimetry Reveal a Novel Phenotype and Potential Trial End Points in CRB1-Associated Retinopathies

PURPOSE: Biallelic crumbs cell polarity complex component 1 (CRB1) mutations can present as Leber congenital amaurosis (LCA), retinitis pigmentosa (RP), or cystic maculopathy. This study reports a novel phenotype of asymptomatic fenestrated slit maculopathy (AFSM) and examines macular volume profile...

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Detalles Bibliográficos
Autores principales: Roshandel, Danial, Thompson, Jennifer A., Heath Jeffery, Rachael C., Sampson, Danuta M., Chelva, Enid, McLaren, Terri L., Lamey, Tina M., De Roach, John N., Durkin, Shane R., Chen, Fred K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Association for Research in Vision and Ophthalmology 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7910635/
https://www.ncbi.nlm.nih.gov/pubmed/34003923
http://dx.doi.org/10.1167/tvst.10.2.38