Monoallelic ABCA4 Mutations Appear Insufficient to Cause Retinopathy: A Quantitative Autofluorescence Study

PURPOSE: To investigate the effect of ABCA4 mutation status on lipofuscin-related quantitative autofluorescence (qAF) in humans and on bisretinoid accumulation in mice. METHODS: Genotyped parents (n = 26; age 37–64 years) of patients with biallelic ABCA4-related retinopathy underwent in-depth retina...

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Enregistré dans:
Détails bibliographiques
Publié dans:Invest Ophthalmol Vis Sci
Auteurs principaux: Müller, Philipp L., Gliem, Martin, Mangold, Elisabeth, Bolz, Hanno J., Finger, Robert P., McGuinness, Myra, Betz, Christian, Jiang, Zhichun, Weber, Bernhard H. F., MacLaren, Robert E., Holz, Frank G., Radu, Roxana A., Charbel Issa, Peter
Format: Artigo
Langue:Inglês
Publié: The Association for Research in Vision and Ophthalmology 2015
Sujets:
Retina
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5110240/
https://ncbi.nlm.nih.gov/pubmed/26720470
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.15-17629
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