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

Müller, P. L., Gliem, M., Mangold, E., Bolz, H. J., Finger, R.P., McGuinness, M., Betz, C., Jiang, Z. and Weber, Bernhard H. F. (2015) Monoallelic ABCA4 Mutations Appear Insufficient to Cause Retinopathy: A Quantitative Autofluorescence Study. Investigative Ophthalmology & Visual Science 56, pp. 8179-8186.

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Abstract

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 retinal phenotyping including qAF imaging as a surrogate measure for RPE lipofuscin accumulation. In ...

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Item type:Article
Date:2015
Institutions:Medicine > Lehrstuhl für Humangenetik
Identification Number:
ValueType
10.1167/iovs.15-17629DOI
26720470PubMed ID
Dewey Decimal Classification:600 Technology > 610 Medical sciences Medicine
Status:Published
Refereed:Yes, this version has been refereed
Created at the University of Regensburg:Partially
Item ID:35133
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