Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Investigative ophthalmology & visual science - 1 Dec 2015

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

Abstract excerpt

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 addition,...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to ATP-Binding Cassette Transporters
Share to Cross-Sectional Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fluorescein Angiography

Share to Fundus Oculi

Share to Mice, Knockout

Share to Retinal Diseases

Share to Retinal Pigment Epithelium

Share to Tomography, Optical Coherence

Source

Open in PubMed Open full text

Identifiers

PMID: 26720470
DOI: 10.1167/iovs.15-17629
PMCID: PMC5110240

Genes

ABCA4
RPE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Monoallelic ABCA4 Mutations Appear Insufficient to Cause Retinopathy: A Quantitative Autofluorescence Study.PMID 26720470Read ↗

Fundus Autofluorescence in the<i>Abca4<sup>−/−</sup></i>Mouse Model of Stargardt Disease—Correlation With Accumulation of A2E, Retinal Function, and HistologySemantic proximity Read ↗

Light damage in Abca4 and Rpe65rd12 mice.Semantic proximity Read ↗

Quantitative fundus autofluorescence in mice: correlation with HPLC quantitation of RPE lipofuscin and measurement of retina outer nuclear layer thickness.Semantic proximity Read ↗

Quantitative Fundus Autofluorescence in ABCA4-Related Retinopathy -Functional Relevance and Genotype-Phenotype Correlation.Semantic proximity Read ↗

Quantitative Fundus Autofluorescence and Optical Coherence Tomography in ABCA4 Carriers.Semantic proximity Read ↗

Delayed dark-adaptation and lipofuscin accumulation in abcr+/- mice: implications for involvement of ABCR in age-related macular degeneration.Semantic proximity Read ↗

Rescue of the Stargardt Disease phenotype in <i>Abca4</i> knockout mice through dietary modulation of the vitamin A receptor RBPR2Semantic proximity Read ↗

Peripheral pigmented lesions in ABCA4-associated retinopathy.Semantic proximity Read ↗

The Rapid-Onset Chorioretinopathy Phenotype of ABCA4 Disease.Semantic proximity Read ↗

Early Patterns of Macular Degeneration in ABCA4-Associated Retinopathy.Semantic proximity Read ↗

Distinct mouse models of Stargardt disease display differences in pharmacological targeting of ceramides and inflammatory responsesSemantic proximity Read ↗

Light exposure stimulates formation of A2E oxiranes in a mouse model of Stargardt's macular degenerationSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.