Quantitative fundus autofluorescence distinguishes ABCA4-associated and non-ABCA4-associated bull's-eye maculopathy

Ophthalmology

Volumn 122, Issue 2, 2015, Pages 345-355

  Duncker, Tobias ^a   Tsang, Stephen H ^a,b   Lee, Winston ^a   Zernant, Jana ^a   Allikmets, Rando ^a,b   Delori, François C ^c   Sparrow, Janet R ^a,b  

^a Och Spine at New York Presbyterian Hospitals   (United States)

^b NewYork Presbyterian Hospital   (United States)

^c SCHEPENS EYE RESEARCH INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ABC TRANSPORTER A4; CARRIER PROTEIN; UNCLASSIFIED DRUG; ABC TRANSPORTER; ABCA4 PROTEIN, HUMAN; LIPOFUSCIN;

ADOLESCENT; ADULT; ARTICLE; AUTOFLUORESCENCE IMAGING; BULL'S EYE MACULOPATHY; CHILD; CLINICAL ARTICLE; CONFOCAL SCANNING LASER OPHTHALMOSCOPE; EYE FUNDUS; FEMALE; GENE MUTATION; HUMAN; IMAGE ANALYSIS; MALE; PRIORITY JOURNAL; QUANTITATIVE FUNDUS AUTOFLUORESCENCE; RETINA MACULOPATHY; SPECTRAL DOMAIN OPTICAL COHERENCE TOMOGRAPHY; VISUAL ACUITY; CROSS-SECTIONAL STUDY; FLUORESCENCE ANGIOGRAPHY; GENETICS; MACULAR DEGENERATION; METABOLISM; MIDDLE AGED; NUCLEOTIDE SEQUENCE; OPTICAL COHERENCE TOMOGRAPHY; PIGMENT EPITHELIUM; PROSPECTIVE STUDY; YOUNG ADULT;

ADOLESCENT; ADULT; ATP-BINDING CASSETTE TRANSPORTERS; CHILD; CROSS-SECTIONAL STUDIES; DNA MUTATIONAL ANALYSIS; FEMALE; FLUORESCEIN ANGIOGRAPHY; HUMANS; LIPOFUSCIN; MACULAR DEGENERATION; MALE; MIDDLE AGED; PROSPECTIVE STUDIES; RETINAL PIGMENT EPITHELIUM; TOMOGRAPHY, OPTICAL COHERENCE; YOUNG ADULT;

EID: 84921608675     PISSN: 01616420     EISSN: 15494713     Source Type: Journal    
DOI: 10.1016/j.ophtha.2014.08.017     Document Type: Article

References (39)

1. U. Kellner, A.B. Renner, and H. Tillack Fundus autofluorescence and mfERG for early detection of retinal alterations in patients using chloroquine/hydroxychloroquine Invest Ophthalmol Vis Sci 47 2006 3531 3538
2. W. Cella, V.C. Greenstein, and J. Zernant-Rajang G1961E mutant allele in the Stargardt disease gene ABCA4 causes bull's eye maculopathy Exp Eye Res 89 2009 16 24
3. M.M. Kurz-Levin, A.S. Halfyard, and C. Bunce Clinical variations in assessment of bull's-eye maculopathy Arch Ophthalmol 120 2002 567 575
4. M. Michaelides, L.L. Chen, and M.A. Brantley Jr. ABCA4 mutations and discordant ABCA4 alleles in patients and siblings with bull's-eye maculopathy Br J Ophthalmol 91 2007 1650 1655
5. T.P. Kearns, and R.W. Hollenhorst Chloroquine retinopathy. Evaluation by fluorescein fundus angiography Arch Ophthalmol 76 1966 378 384
6. M. Michaelides, M.C. Gaillard, and P. Escher The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy Invest Ophthalmol Vis Sci 51 2010 4771 4780
7. M. Michaelides, G.E. Holder, and D.M. Hunt A detailed study of the phenotype of an autosomal dominant cone-rod dystrophy (CORD7) associated with mutation in the gene for RIM1 Br J Ophthalmol 89 2005 198 206
8. M. Michaelides, S. Johnson, and A. Poulson An autosomal dominant bull's-eye macular dystrophy (MCDR2) that maps to the short arm of chromosome 4 Invest Ophthalmol Vis Sci 44 2003 1657 1662
9. A. Robson, M. Michaelides, and Z. Saihan Functional characteristics of patients with retinal dystrophy that manifest abnormal parafoveal annuli of high density fundus autofluorescence; a review and update Doc Ophthalmol 116 2008 79 89
10. A.G. Robson, M. Michaelides, and V.A. Luong Functional correlates of fundus autofluorescence abnormalities in patients with RPGR or RIMS1 mutations causing cone or cone rod dystrophy Br J Ophthalmol 92 2008 95 102
11. M. Michaelides, S.E. Wilkie, and S. Jenkins Mutation in the gene GUCA1A, encoding guanylate cyclase-activating protein 1, causes cone, cone-rod, and macular dystrophy Ophthalmology 112 2005 1442 1447
12. F.C. Delori, C.K. Dorey, and G. Staurenghi In vivo fluorescence of the ocular fundus exhibits retinal pigment epithelium lipofuscin characteristics Invest Ophthalmol Vis Sci 36 1995 718 729
13. J.R. Sparrow, E. Gregory-Roberts, and K. Yamamoto The bisretinoids of retinal pigment epithelium Prog Retin Eye Res 31 2012 121 135
14. J.P. Greenberg, T. Duncker, and R.L. Woods Quantitative fundus autofluorescence in healthy eyes Invest Ophthalmol Vis Sci 54 2013 5684 5693
15. F.C. Delori, D.G. Goger, and C.K. Dorey Age-related accumulation and spatial distribution of lipofuscin in RPE of normal subjects Invest Ophthalmol Vis Sci 42 2001 1855 1866
16. F.C. Delori, G. Staurenghi, and O. Arend In vivo measurement of lipofuscin in Stargardt's disease - fundus flavimaculatus Invest Ophthalmol Vis Sci 36 1995 2327 2331
17. C.D. Birnbach, M. Jarvelainen, D.E. Possin, and A.H. Milam Histopathology and immunocytochemistry of the neurosensory retina in fundus flavimaculatus Ophthalmology 101 1994 1211 1219
18. A.V. Cideciyan, T.S. Aleman, and M. Swider Mutations in ABCA4 result in accumulation of lipofuscin before slowing of the retinoid cycle: a reappraisal of the human disease sequence Hum Mol Genet 13 2004 525 534
19. R.C. Eagle Jr., A.C. Lucier, V.B. Bernardino Jr., and M. Yanoff Retinal pigment epithelial abnormalities in fundus flavimaculatus: a light and electron microscopic study Ophthalmology 87 1980 1189 1200
20. T.R. Burke, T. Duncker, and R.L. Woods Quantitative fundus autofluorescence in recessive Stargardt disease Invest Ophthalmol Vis Sci 55 2014 2841 2852
21. K. Jaakson, J. Zernant, and M. Kulm Genotyping microarray (gene chip) for the ABCR (ABCA4) gene Hum Mutat 22 2003 395 403
22. F. Delori, J.P. Greenberg, and R.L. Woods Quantitative measurements of autofluorescence with the scanning laser ophthalmoscope Invest Ophthalmol Vis Sci 52 2011 9379 9390
23. T. Duncker, J.P. Greenberg, and R. Ramachandran Quantitative fundus autofluorescence and optical coherence tomography in Best vitelliform macular dystrophy Invest Ophthalmol Vis Sci 55 2014 1471 1482
24. R.F. Spaide, and C.A. Curcio Anatomical correlates to the bands seen in the outer retina by optical coherence tomography. Literature review and model Retina 31 2011 1609 1619
25. J. van de Kraats, and D. van Norren Optical density of the aging human ocular media in the visible and the UV J Opt Soc Am A Opt Image Sci Vis 24 2007 1842 1857
26. J.M. Bland, and D.G. Altman Statistical method for assessing agreement between two methods of clinical measurement Lancet 1 1986 307 310
27. N. Lois, G.E. Holder, and C. Bunce Phenotypic subtypes of Stargardt macular dystrophy - fundus flavimaculatus Arch Ophthalmol 119 2001 359 369
28. G.A. Fishman, E.M. Stone, and S. Grover Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in ABCR gene Arch Ophthalmol 117 1999 504 510
29. F. Quazi, S. Lenevich, and R.S. Molday ABCA4 is an N-retinylidene-phosphatidylethanolamine and phosphatidylethanolamine importer Nat Commun 3 2012 925
30. T.R. Burke, S. Yzer, and J. Zernant Abnormality in the external limiting membrane in early Stargardt disease Ophthalmic Genet 34 2013 75 77
31. J.P. Greenberg, J. Sherman, and S.A. Zweifel Spectral-domain optical coherence tomography staging and autofluorescence imaging in achromatopsia JAMA Ophthalmol 132 2014 437 445
32. T.R. Burke, G.A. Fishman, and J. Zernant Retinal phenotypes in patients homozygous for the G1961E mutation in the ABCA4 gene Invest Ophthalmol Vis Sci 53 2012 4458 4467
33. J. Zernant, C. Schubert, and K.M. Im Analysis of the ABCA4 gene by next-generation sequencing Invest Ophthalmol Vis Sci 52 2011 8479 8487
34. K. Fujinami, P.I. Sergouniotis, and A.E. Davidson The clinical effect of homozygous ABCA4 alleles in 18 patients Ophthalmology 120 2013 2324 2331
35. T. Duncker, M.R. Tabacaru, and W. Lee Comparison of near-infrared and short-wavelength autofluorescence in retinitis pigmentosa Invest Ophthalmol Vis Sci 54 2013 585 591
36. J.R. Sparrow, K.D. Yoon, Y. Wu, and K. Yamamoto Interpretations of fundus autofluorescence from studies of the bisretinoids of the retina Invest Ophthalmol Vis Sci 51 2010 4351 4357
37. K.B. Freund, S. Mrejen, and J. Jung Increased fundus autofluorescence related to outer retinal disruption JAMA Ophthalmol 131 2013 1645 1649
38. M.A. Lazow, D.C. Hood, and R. Ramachandran Transition zones between healthy and diseased retina in choroideremia (CHM) and Stargardt disease (STGD) as compared to retinitis pigmentosa (RP) Invest Ophthalmol Vis Sci 52 2011 9581 9590
39. S.J. Yamamoto, M. Jaiswal, and W.L. Charng A Drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases Cell 159 2014 200 214