Literature DB >> 23761084

Fundus autofluorescence in the Abca4(-/-) mouse model of Stargardt disease--correlation with accumulation of A2E, retinal function, and histology.

Peter Charbel Issa1, Alun R Barnard, Mandeep S Singh, Emma Carter, Zhichun Jiang, Roxana A Radu, Ulrich Schraermeyer, Robert E MacLaren.   

Abstract

PURPOSE: To investigate fundus autofluorescence (AF) characteristics in the Abca4(-/-) mouse, an animal model for AMD and Stargardt disease, and to correlate findings with functional, structural, and biochemical assessments.
METHODS: Blue (488 nm) and near-infrared (790 nm) fundus AF images were quantitatively and qualitatively analyzed in pigmented Abca4(-/-) mice and wild type (WT) controls in vivo. Functional, structural, and biochemical assessments included electroretinography (ERG), light and electron microscopic analysis, and A2E quantification. All assessments were performed across age groups.
RESULTS: In Abca4(-/-) mice, lipofuscin-related 488 nm AF increased early in life with a ceiling effect after 6 months. This increase was first paralleled by an accumulation of typical lipofuscin granules in the retinal pigment epithelium (RPE). Later, lipofuscin and melanin granules decreased in number, whereas melanolipofuscin granules increased. This increase in melanolipofuscin granules paralleled an increase in melanin-related 790 nm AF. Old Abca4(-/-) mice revealed a flecked fundus AF pattern at both excitation wavelengths. The amount of A2E, a major lipofuscin component, increased 10- to 12-fold in 6- to 9-month-old Abca4(-/-) mice compared with controls, while 488 nm AF intensity only increased 2-fold. Despite pronounced lipofuscin accumulation in the RPE of Abca4(-/-) mice, ERG and histology showed a slow age-related thinning of the photoreceptor layer similar to WT controls up to 12 months.
CONCLUSIONS: Fundus AF can be used to monitor lipofuscin accumulation and melanin-related changes in vivo in mouse models of retinal disease. High RPE lipofuscin may not adversely affect retinal structure or function over prolonged time intervals, and melanin-related changes (melanolipofuscin formation) may occur before the decline in retinal function.

Entities:  

Keywords:  A2E; Abca4; fundus autofluorescence; mouse model

Mesh:

Substances:

Year:  2013        PMID: 23761084      PMCID: PMC3747716          DOI: 10.1167/iovs.13-11688

Source DB:  PubMed          Journal:  Invest Ophthalmol Vis Sci        ISSN: 0146-0404            Impact factor:   4.799


  42 in total

1.  Oxidation causes melanin fluorescence.

Authors:  P Kayatz; G Thumann; T T Luther; J F Jordan; K U Bartz-Schmidt; P J Esser; U Schraermeyer
Journal:  Invest Ophthalmol Vis Sci       Date:  2001-01       Impact factor: 4.799

2.  Loss of melanin from human RPE with aging: possible role of melanin photooxidation.

Authors:  Tadeusz Sarna; Janice M Burke; Witold Korytowski; Małgorzata Rózanowska; Christine M B Skumatz; Agnieszka Zareba; Mariusz Zareba
Journal:  Exp Eye Res       Date:  2003-01       Impact factor: 3.467

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

Authors:  Janet R Sparrow; Anna Blonska; Erin Flynn; Tobias Duncker; Jonathan P Greenberg; Roberta Secondi; Keiko Ueda; François C Delori
Journal:  Invest Ophthalmol Vis Sci       Date:  2013-04-17       Impact factor: 4.799

4.  Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy.

Authors:  A Maugeri; B J Klevering; K Rohrschneider; A Blankenagel; H G Brunner; A F Deutman; C B Hoyng; F P Cremers
Journal:  Am J Hum Genet       Date:  2000-08-24       Impact factor: 11.025

5.  The lipofuscin fluorophore A2E mediates blue light-induced damage to retinal pigmented epithelial cells.

Authors:  J R Sparrow; K Nakanishi; C A Parish
Journal:  Invest Ophthalmol Vis Sci       Date:  2000-06       Impact factor: 4.799

6.  In vivo measurement of lipofuscin in Stargardt's disease--Fundus flavimaculatus.

Authors:  F C Delori; G Staurenghi; O Arend; C K Dorey; D G Goger; J J Weiter
Journal:  Invest Ophthalmol Vis Sci       Date:  1995-10       Impact factor: 4.799

7.  In vivo fluorescence of the ocular fundus exhibits retinal pigment epithelium lipofuscin characteristics.

Authors:  F C Delori; C K Dorey; G Staurenghi; O Arend; D G Goger; J J Weiter
Journal:  Invest Ophthalmol Vis Sci       Date:  1995-03       Impact factor: 4.799

8.  Fundus autofluorescence in Stargardt macular dystrophy-fundus flavimaculatus.

Authors:  Noemi Lois; Anthony S Halfyard; Alan C Bird; Graham E Holder; Frederick W Fitzke
Journal:  Am J Ophthalmol       Date:  2004-07       Impact factor: 5.258

9.  Inhibition of the ATP-driven proton pump in RPE lysosomes by the major lipofuscin fluorophore A2-E may contribute to the pathogenesis of age-related macular degeneration.

Authors:  M Bergmann; F Schütt; F G Holz; J Kopitz
Journal:  FASEB J       Date:  2004-01-08       Impact factor: 5.191

10.  Mutations in ABCA4 result in accumulation of lipofuscin before slowing of the retinoid cycle: a reappraisal of the human disease sequence.

Authors:  Artur V Cideciyan; Tomas S Aleman; Malgorzata Swider; Sharon B Schwartz; Janet D Steinberg; Alexander J Brucker; Albert M Maguire; Jean Bennett; Edwin M Stone; Samuel G Jacobson
Journal:  Hum Mol Genet       Date:  2004-01-06       Impact factor: 6.150

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  49 in total

1.  Quantitative Fundus Autofluorescence and Optical Coherence Tomography in ABCA4 Carriers.

Authors:  Tobias Duncker; Gregory E Stein; Winston Lee; Stephen H Tsang; Jana Zernant; Srilaxmi Bearelly; Donald C Hood; Vivienne C Greenstein; François C Delori; Rando Allikmets; Janet R Sparrow
Journal:  Invest Ophthalmol Vis Sci       Date:  2015-11       Impact factor: 4.799

2.  Protective responses to sublytic complement in the retinal pigment epithelium.

Authors:  Li Xuan Tan; Kimberly A Toops; Aparna Lakkaraju
Journal:  Proc Natl Acad Sci U S A       Date:  2016-07-18       Impact factor: 11.205

3.  Non-viral Gene Therapy for Stargardt Disease with ECO/pRHO-ABCA4 Self-Assembled Nanoparticles.

Authors:  Da Sun; Rebecca M Schur; Avery E Sears; Song-Qi Gao; Amita Vaidya; Wenyu Sun; Akiko Maeda; Timothy Kern; Krzysztof Palczewski; Zheng-Rong Lu
Journal:  Mol Ther       Date:  2019-09-12       Impact factor: 11.454

4.  Localization and functional characterization of the p.Asn965Ser (N965S) ABCA4 variant in mice reveal pathogenic mechanisms underlying Stargardt macular degeneration.

Authors:  Laurie L Molday; Daniel Wahl; Marinko V Sarunic; Robert S Molday
Journal:  Hum Mol Genet       Date:  2018-01-15       Impact factor: 6.150

5.  Efficacy of novel selective NLRP3 inhibitors in human and murine retinal pigment epithelial cells.

Authors:  Luping Wang; Sarah Schmidt; Petra P Larsen; Johanna H Meyer; William R Roush; Eicke Latz; Frank G Holz; Tim U Krohne
Journal:  J Mol Med (Berl)       Date:  2019-02-10       Impact factor: 4.599

Review 6.  Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations.

Authors:  Frans P M Cremers; Winston Lee; Rob W J Collin; Rando Allikmets
Journal:  Prog Retin Eye Res       Date:  2020-04-09       Impact factor: 21.198

Review 7.  Lessons learned from quantitative fundus autofluorescence.

Authors:  Janet R Sparrow; Tobias Duncker; Kaspar Schuerch; Maarjaliis Paavo; Jose Ronaldo Lima de Carvalho
Journal:  Prog Retin Eye Res       Date:  2019-08-28       Impact factor: 21.198

8.  Predicting Progression of ABCA4-Associated Retinal Degenerations Based on Longitudinal Measurements of the Leading Disease Front.

Authors:  Artur V Cideciyan; Malgorzata Swider; Sharon B Schwartz; Edwin M Stone; Samuel G Jacobson
Journal:  Invest Ophthalmol Vis Sci       Date:  2015-09       Impact factor: 4.799

9.  Dual ABCA4-AAV Vector Treatment Reduces Pathogenic Retinal A2E Accumulation in a Mouse Model of Autosomal Recessive Stargardt Disease.

Authors:  Frank M Dyka; Laurie L Molday; Vince A Chiodo; Robert S Molday; William W Hauswirth
Journal:  Hum Gene Ther       Date:  2019-09-30       Impact factor: 5.695

10.  A2E and lipofuscin distributions in macaque retinal pigment epithelium are similar to human.

Authors:  Patrick Pallitto; Zsolt Ablonczy; E Ellen Jones; Richard R Drake; Yiannis Koutalos; Rosalie K Crouch; John Donello; Julia Herrmann
Journal:  Photochem Photobiol Sci       Date:  2015-10       Impact factor: 3.982

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