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Article

Mutations in GPR143/OA1 and ABCA4 Inform Interpretations of Short-Wavelength and Near-Infrared Fundus Autofluorescence.

Investigative ophthalmology & visual science - 1 May 2018

Paavo Maarjaliis, Zhao Jin, Kim Hye Jin, Lee Winston, Zernant Jana, Cai Carolyn, Allikmets Rando, Tsang Stephen H, Sparrow Janet R

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 29847651
DOI: 10.1167/iovs.18-24213
PMCID: PMC5959512

Genes

ABCA4
RPE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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