The Natural History of Inherited Retinal Dystrophy Due to Biallelic Mutations in the RPE65 Gene

• PURPOSE: To delineate the natural history of visual parameters over time in individuals with biallelic RPE65 mutation–associated inherited retinal dystrophy (IRD); describe the range of causative mutations; determine potential genotype/phenotype relationships; and describe the variety of clinical...

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發表在:Am J Ophthalmol
Main Authors: CHUNG, DANIEL C., BERTELSEN, METTE, LORENZ, BIRGIT, PENNESI, MARK E., LEROY, BART P., HAMEL, CHRISTIAN P., PIERCE, ERIC, SALLUM, JULIANA, LARSEN, MICHAEL, STIEGER, KNUT, PREISING, MARKUS, WELEBER, RICHARD, YANG, PAUL, PLACE, EMILY, LIU, EMILY, SCHAEFER, GRACE, DISTEFANO-PAPPAS, JULIE, ELCI, OKAN U., MCCAGUE, SARAH, WELLMAN, JENNIFER A., HIGH, KATHERINE A., REAPE, KATHLEEN Z.
格式: Artigo
語言:Inglês
出版: 2018
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Article
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC6445969/
https://ncbi.nlm.nih.gov/pubmed/30268864
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajo.2018.09.024
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