Added value of infrared, red-free and autofluorescence fundus imaging in pseudoxanthoma elasticum

British Journal of Ophthalmology

Volumn 94, Issue 4, 2010, Pages 479-486

  De Zaeytijd, Julie ^a   Vanakker, Olivier M ^a,b   Coucke, Paul J ^a   De Paepe, Anne ^a   De Laey, Jean Jacques ^a   Leroy, Bart P ^a  

^a GHENT UNIVERSITY HOSPITAL   (Belgium)

^b FUND FOR SCIENTIFIC RESEARCH   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AGED; ANGIOID STREAK; ARTICLE; AUTOFLUORESCENCE IMAGING; CHILD; CLINICAL ARTICLE; CLINICAL EVALUATION; DIAGNOSTIC ACCURACY; DIAGNOSTIC VALUE; EYE FUNDUS; FEMALE; FOLLOW UP; HETEROZYGOTE; HUMAN; IMAGING SYSTEM; INFRARED RADIATION; MALE; NEAR INFRARED REFLECTANCE SPECTROSCOPY; OPHTHALMOSCOPY; PHOTODYNAMIC THERAPY; PIGMENT EPITHELIUM; PRIORITY JOURNAL; PSEUDOXANTHOMA ELASTICUM; RETINOPATHY; SCHOOL CHILD;

ADOLESCENT; ADULT; AGED; FEMALE; FLUORESCEIN ANGIOGRAPHY; FUNDUS OCULI; HUMANS; INFRARED RAYS; MALE; MIDDLE AGED; PHOTOGRAPHY; PSEUDOXANTHOMA ELASTICUM; YOUNG ADULT;

EID: 77950813935     PISSN: 00071161     EISSN: 14682079     Source Type: Journal    
DOI: 10.1136/bjo.2009.162644     Document Type: Article

References (27)

1. Neldner KH. Pseudoxanthoma elasticum. Clin Dermatol 1988;6:83-92.
2. Hu X, Plomp AS, van Soest A, et al. Pseudoxanthoma elasticum: a clinical, histopathological and molecular update. Surv Ophthalmol 2003;48:424-438 (Pubitemid 36798130)
3. Vanakker OM, Leroy BP, Coucke PJ, et al. Novel clinico-molecular insights in Pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchart. Hum Mutat 2008;29;205.
4. Le Saux O, Urban Z, Tschuch C, et al. Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum. Nat Genet 2000;25:223-227 (Pubitemid 30394998)
5. Le Saux, Beck K, Sachsinger C, et al. A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum. Am J Hum Genet 2001;69:749-764 (Pubitemid 32868520)
6. Gass JD. 'Comet' lesion: an ocular sign of pseudoxanthoma elasticum. Retina 2003;23:729-730
7. Aessopos A, Savvides P, Stamatelos G, et al. Pseudoxanthoma elasticum-like skin lesions and angioid streaks in beta-thalassemia. Am J Hematol 1992;41:159-164
8. Vanakker O, Martin L, Gheduzzi D, et al. Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity. J Invest Dermatol 2007;127:581-587 (Pubitemid 46271025)
9. Von Rückmann A, Fitzke FW, Bird AC. Distribution of fundus autofluorescence with a scanning laser ophthalmoscope. Br J Ophthalmol 1995;79:407-412
10. Von Rückmann A, Fitzke FW, Bird AC. Fundus autofluorescence in age related macular disease imaged with a scanning laser ophthalmoscope. Invest Ophthalmol Vis Sci 1997;38:478-486 (Pubitemid 27085705)
11. Von Rückmann A, Fitzke FW, Bird AC. Distribution of pigment epithelium autofluorescence in retinal disease state recorded in vivo and its change over time. Graefes Arch Clin Exp Ophthalmol 1999;237:1-9. (Pubitemid 29134858)
12. Bellman C, Holz FG, Schapp O, et al. Topgraphie der Fundusautofluoreszenz met einem neuen konfokalen Scanning-Laser-Ophthalmoskop. Ophthalmologe 1997;94:385-391 (Pubitemid 27299675)
13. Elsner AE, Burns SA, Weiter JJ, et al. Infrared imaging of sub-retinal structures in the human ocular fundus. Vision Res 1996;36:191-205.
14. Weinberger A, Lappas A, Kirschkamp T, et al. Fundus near infrared fluorescence correlates with fundus near infrared reflectance. Invest Ophthalmol Vis Sci 2006;47:3098-3108 (Pubitemid 351639789)
15. Eldred GE, Katz ML. Fluorophores of the human retinal pigment epithelium: separation and spectral characterization. Exp Eye Res 1988;47:71-86.
16. Dorey KC, Wu G, Ebenstein D, et al. Cell loss in aging retina. Relationship to lipofuscin accumulation and macular degeneration. Invest Ophthalmol Vis Sci 1989;30:1691-1719
17. Holz FG, Bellmann C, Margaritidis M, et al. Patterns of increased in vivo fundus autofluorescence in the junctional zone of geogrraphic atrophy of the retinal pigment epithelium associated with age-related macular degeneration. Graefes Arch Clin Exp Ophthalmol 1999;237:145-152 (Pubitemid 29137302)
18. Holz FG, Schutt F, Kopitz J, et al. Inhibition of lysosomal degradative functions in RPE cells by a retinoid component of lipofuscin. Invest Ophthalmol Vis Sci 1999;40:737-743 (Pubitemid 29109453)
19. Schutt F, Davies S, Kopitz J, et al. Photodamage to human RPE cells by A2E, a retinoid component of lipofuscin. Invest Ophthalmol Vis Sci 2000;41:2303-2308 (Pubitemid 30451007)
20. Sparrow JR, Nakanishi K, Parish CA. The lipofuscin fluorophore A2E mediates blue light-induced damage to retinal pigmented epithelial cells. Invest Ophthalmol Vis Sci 2000;41:1981-1989 (Pubitemid 30354376)
21. Delori FC, Goger DB, Dorey KC. Age-related accumulation and spatial distribution of lipofuscin in RPE of normal subjects. Invest Ophthalmol Vis Sci 2001;42:1855-1866
22. Bergmann M, Schütt F, Holz FG, et al. Inhibition of the ATP-driven proton pump in RPE lysosomes by the major fluorophore A2E may contribute to the pathogenesis of age-related macular degeneration. FASEB J 2004;18:562-564
23. Brunk UT, Terman A. Lipofuscin: mechanisms of age-related accumulation and influence on cell function. Free Radic Biol Med 2005;33:611-619 (Pubitemid 35245833)
24. Archer DB, Logan WC. Angioid streaks. In: Krill AE, Archer DB, eds. Krill's hereditary retinal and choroidal diseases. vol.II. Hagerstown, MD: Harper & Row, Publishers, 1977:851-909.
25. Sawa M, Ober M, Freund B, et al. Fundus autofluorescence in patients with pseudoxanthoma elasticum. Ophthalmology 2006;5:814-820
26. Neldner KH, Struk B. Pseudoxanthoma elasticum. In: Royce PM, Steinmann B, eds. Connective tissue and its heritable disorders. New York: Wiley-Liss Inc, 2002:561-583
27. Pierro L, Brancato R, Minicucci M, et al. Echographic diagnosis of drusen of the optic nerve head in patients with angioid streaks. Ophthalmologica 1994;2008:239-242 (Pubitemid 24300625)