ArticleInvestigative ophthalmology & visual science2018
Mutations in GPR143/OA1 and ABCA4 Inform Interpretations of Short-Wavelength and Near-Infrared Fundus Autofluorescence.
Article in Investigative ophthalmology & visual science, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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Who cites it
31 citing papers in PubMed, 33 citations in OpenAlex.
- Enhanced Visualization of Choroidal Defects in Focal Choroidal Excavation With Near-Infrared Autofluorescence: Multimodal Imaging Study.Translational vision science & technology · 2026Observational
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- More insights from Abca4The Journal of biological chemistry · 2026Article
- Super-Resolution Near-Infrared Autofluorescence Microscopy Depicts Melanin Containing Organelles of the Retinal Pigment Epithelium in Human Donor Eyes.Investigative ophthalmology & visual science · 2025Article
- Bisretinoid lipofuscin, fundus autofluorescence and retinal disease.Progress in retinal and eye research · 2025Review
- Neurotransmitter-bound bestrophin channel structures reveal small molecule drug targeting sites for disease treatment.Nature communications · 2024Article
- Near-Infrared Autofluorescence: Early Detection of Retinal Pigment Epithelial Alterations in Inherited Retinal Dystrophies.Journal of clinical medicine · 2024Review
- Multispectral label-freeJournal of biomedical optics · 2024Article
- Near Infrared Autofluorescence Lifetime Imaging of Human Retinal Pigment Epithelium Using Adaptive Optics Scanning Light Ophthalmoscopy.Investigative ophthalmology & visual science · 2024Article
- Insights Into PROM1-Macular Disease Using Multimodal Imaging.Investigative ophthalmology & visual science · 2023Article
- Longitudinal Analysis of a Resolving Foveomacular Vitelliform Lesion in ABCA4 Disease.Ophthalmology. Retina · 2022Article
- Choroideremia Carriers: Dark-Adapted Perimetry and Retinal Structures.Investigative ophthalmology & visual science · 2022Article
- Phenotype-Based Genetic Analysis Reveals Missing Heritability of ABCA4-Related Retinopathy: Deep Intronic Variants and Copy Number Variations.Investigative ophthalmology & visual science · 2022Article
- In vivo multimodal retinal imaging of disease-related pigmentary changes in retinal pigment epithelium.Scientific reports · 2021Article
- Lutein and zeaxanthin reduce A2E and iso-A2E levels and improve visual performance in Abca4Experimental eye research · 2021Article
- Shared Features in Retinal Disorders With Involvement of Retinal Pigment Epithelium.Investigative ophthalmology & visual science · 2021Article
- Identification of a novel GPR143 mutation in a large Chinese family with isolated foveal hypoplasia.BMC ophthalmology · 2021Article
- Fundus autofluorescence imaging.Progress in retinal and eye research · 2021Review
- Three-Dimensional Distribution Of Fundus Depolarization and Associating Factors Measured Using Polarization-Sensitive Optical Coherence Tomography.Translational vision science & technology · 2021Article
- Central Serous Chorioretinopathy Analyzed by Multimodal Imaging.Translational vision science & technology · 2021Article
Corrections and comments
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
Abstract
Purpose: We sought to advance interpretations and quantification of short-wavelength fundus autofluorescence (SW-AF) emitted from bisretinoid lipofuscin and near-infrared autofluoresence (NIR-AF) originating from melanin. Methods: Carriers of mutations in X-linked GPR143/OA1, a common form of ocular albinism; patients with confirmed mutations in ABCA4 conferring increased SW-AF; and subjects with healthy eyes were studied. SW-AF (488 nm excitation, 500-680 nm emission) and NIR-AF (excitation 787 nm, emission >830 nm) images were acquired with a confocal scanning laser ophthalmoscope. SW-AF images were analyzed for quantitative autofluoresence (qAF). Analogous methods of image acquisition and analysis were performed in albino and pigmented Abca4-/- mice and wild-type mice. Results: Quantitation of SW-AF (qAF), construction of qAF color-coded maps, and examination of NIR-AF images from GPR143/OA1 carriers revealed mosaics in which patches of fundus exhibiting NIR-AF signal had qAF levels within normal limits whereas the hypopigmented areas in the NIR-AF image corresponded to foci of elevated qAF. qAF also was increased in albino versus pigmented mice. Although melanin contributes to fundus infrared reflectance, the latter appeared to be uniform in en face reflectance images of GPR143/OA1-carriers. In patients diagnosed with ABCA4-associated disease, NIR-AF increased in tandem with increased qAF originating in bisretinoid lipofuscin. Similarly in Abca4-/- mice having increased SW-AF, NIR-AF was more pronounced than in wild-type mice. Conclusions: These studies corroborate RPE melanin as the major source of NIR-AF but also indicate that bisretinoid lipofuscin, when present at sufficient concentrations, contributes to the NIR-AF signal. Ocular melanin attenuates the SW-AF signal.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.