Multimodal morphological and functional characterization of Malattia Leventinese

Graefe's Archive for Clinical and Experimental Ophthalmology

Volumn 251, Issue 3, 2013, Pages 705-714

  Querques, Giuseppe ^a   Guigui, Benjamin ^a   Leveziel, Nicolas ^a   Querques, Lea ^a,b   Bandello, Francesco ^b   Souied, Eric H ^a  

^a UNIVERSITÉ PARIS EST CRÉTEIL   (France)

^b SAN RAFFAELE HOSPITAL   (Italy)

Author keywords

Age related macular degeneration; Autofluorescence; Doyne honeycomb retinal dystrophy; Drusen; Fluorescein angiography; Indocyanine green angiography; Malattia leventinese; Optical coherence tomography

Indexed keywords

ADULT; ARTICLE; AUTOFLUORESCENCE IMAGING; AUTOSOMAL DOMINANT INHERITANCE; BRUCH MEMBRANE; CLINICAL ARTICLE; CLINICAL FEATURE; DRUSEN; EFEMP1 GENE; EYE EXAMINATION; FEMALE; FIBULIN 3 GENE; FUNCTIONAL MORPHOLOGY; GENE; GENE MUTATION; HUMAN; INDOCYANINE GREEN ANGIOGRAPHY; MALATTIA LEVENTINESE; MALE; PERIMETRY; PIGMENT EPITHELIUM; PRIORITY JOURNAL; RETINA FLUORESCEIN ANGIOGRAPHY; RETINA MACULA AGE RELATED DEGENERATION; SPECTRAL DOMAIN OPTICAL COHERENCE TOMOGRAPHY; VISUAL ACUITY; VISUAL DISCRIMINATION;

ADULT; COLORING AGENTS; CORNEAL DYSTROPHIES, HEREDITARY; EXTRACELLULAR MATRIX PROTEINS; FEMALE; FLUORESCEIN ANGIOGRAPHY; HUMANS; INDOCYANINE GREEN; MACULAR DEGENERATION; MALE; MIDDLE AGED; RETINAL DRUSEN; TOMOGRAPHY, OPTICAL COHERENCE; VISUAL ACUITY; VISUAL FIELD TESTS; VISUAL FIELDS;

EID: 84877153014     PISSN: 0721832X     EISSN: 1435702X     Source Type: Journal    
DOI: 10.1007/s00417-012-2106-5     Document Type: Article

References (32)

1. Gass JD (1973) Drusen and disciform macular detachment and degeneration. Arch Ophthalmol 90:206-217
2. Pauleikhoff D, Barondes MJ, Minassian D, Chisholm IH, Bird AC (1990) Drusen as risk factors in age-related macular disease. Am J Ophthalmol 109:38-43
3. Vogt A (1925) Die Ophthalmoskopie im rotfreien Licht. In: Graefe A, Saemisch T (eds) Handbuch der gesamten Augenheilkunde. Untersuchungsmethoden, 3rd ed. Verlag von Wilhelm Engelman, Leipzig, pp 1-118
4. Piguet B, Haimovici R, Bird AC (1995) Dominantly inherited drusen represent more than one disorder: a historical review. Eye 9:34-41
5. Stone EM, Lotery AJ, Munier FL, Héon E, Piguet B, Guymer RH, Vandenburgh K, Cousin P, Nishimura D, Swiderski RE, Silvestri G, Mackey DA, Hageman GS, Bird AC, Sheffield VC, Schorderet DF (1999) A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy. Nat Genet 22:199-202
6. Matsumoto M, Traboulsi EI (2001) Dominant radial drusen and Arg345Trp EFEMP1 mutation. Am J Ophthalmol 131:810-812
7. Michaelides M, Jenkins SA, Brantley MA Jr, Andrews RM, Waseem N, Luong V, Gregory-Evans K, Bhattacharya SS, Fitzke FW, Webster AR (2006) Maculopathy due to the R345W substitution in fibulin-3: distinct clinical features, disease variability, and extent of retinal dysfunction. Invest Ophthalmol Vis Sci 47:3085-3097
8. Marmorstein LY, Munier FL, Arsenijevic Y, Schorderet DF, McLaughlin PJ, Chung D, Traboulsi E, Marmorstein AD (2002) Aberrant accumulation of EFEMP1 underlies drusen formation in Malattia Leventinese and age-related macular degeneration. Proc Natl Acad Sci USA 99:13067-13072
9. Guigui B, Leveziel N, Martinet V, Massamba N, Sterkers M, Coscas G, Souied EH (2011) Angiography features of early onset drusen. Br J Ophthalmol 95:238-244
10. Landa G, Rosen RB, Garcia PM, Seiple WH (2009) Combined three-dimensional spectral OCT/SLO topography and microperimetry: steps toward achieving functional spectral OCT/SLO. Ophthalmic Res 43:92-98
11. Alster Y, Bressler NM, Bressler SB, Brimacombe JA, Crompton RM, Duh YJ, Gabel VP, Heier JS, Ip MS, Loewenstein A, Packo KH, Stur M, Toaff T, Preferential Hyperacuity Perimetry Research Group (2005) Preferential hyperacuity perimeter (PreView) for detecting choroidal neovascularization study. Ophthalmology 112:1758-1765
12. Bloom SM, Singal IP (2011) The outer Bruch membrane layer: A previously undescribed spectral-domain optical coherence tomography finding. Retina 31:316-323
13. Zweifel SA, Engelbert M, Laud K, Margolis R, Spaide RF, Freund KB (2009) Outer retinal tubulation: A novel optical coherence tomography finding. Arch Ophthalmol 127:1596-1602
14. Cohen SY, Dubois L, Nghiem-Buffet S, Ayrault S, Fajnkuchen F, Guiberteau B, Delahaye-Mazza C, Quentel G, Tadayoni R (2010) Retinal pseudocysts in age-related geographic atrophy. Am J Ophthalmol 150:211-217
15. von Ruckmann A, Fitzke FW, Bird AC (1999) Distribution of pigment epithelium autofluorescence in retinal disease state recorded in vivo and its change over time. Graefes Arch Clin Exp Ophthalmol 237:1-9
16. von Ruckmann A, Schmidt KG, Fitzke FW, Bird AC, Jacobi KW (1998) Fundus autofluorescence in patients with hereditary macular dystrophies, Malattia Leventinese, familial dominant and aged-related drusen. Klin Monatsbl Augenheilkd 213:81-86
17. von Ruckmann A, Fitzke FW, Bird AC (1997) Fundus autofluorescence in age related macular disease imaged with a scanning laser ophthalmoscope. Invest Ophthalmol Vis Sci 38:478-486
18. Lois N, Owens SL, Coco R, Hopkins J, Fitzke FW, Bird AC (2002) Fundus autofluorescence in patients with age-related macular degeneration and high risk of visual loss. Am J Ophthalmol 133:341-349
19. Kitagawa K, Nishida S, Ogura Y (1989) In vivo quantitation of autofluorescence in human retinal pigment epithelium. Ophthalmologica 199:116-121
20. Pauleikhoff D, Zuels S, Sheraidah GS, Marshall J, Wessing A, Bird AC (1992) Correlation between biochemical composition and fluorescein binding of deposits in Bruch's membrane. Ophthalmology 99:1548-1553
21. Arnold JJ, Quaranta M, Soubrane G, Sarks SH, Coscas G (1997) Indocyanine green angiography of drusen. Am J Ophthalmol 124:344-356
22. Scheider A, Neuhauser L (1992) Fluorescence characteristics of drusen during indocyanine-green angiography and their possible correlation with choroidal perfusion. Ger J Ophthalmol 1:328-334
23. Curcio CA, Millican CL, Bailey T, Kruth HS (2001) Accumulation of cholesterol with age in human Bruch's membrane. Invest Ophthalmol Vis Sci 42:265-274
24. Li CM, Clark ME, Rudolf M, Curcio CA (2007) Distribution and composition of esterified and unesterified cholesterol in extra-macular drusen. Exp Eye Res 85:192-201
25. Russell SR, Gupta RR, Folk JC, Mullins RF, Hageman GS (2004) Comparison of color to fluorescein angiographic images from patients with early-adult onset grouped drusen suggests drusen substructure. Am J Ophthalmol 137:924-930
26. Collins ET (1913) A pathological report upon a case of Doyne's chorioditis ('Honeycomb' or 'family' choroiditis). The ophthalmoscope 11:537-538
27. Dusek J, Streicher T, Schmidt K (1982) Hereditary drusen of Bruch's membrane II: Studies of semi-thin sections and electron microscopy results. Klin Monatsbl Augenheilkd 181:79-83
28. Fu L, Garland D, Yang Z, Shukla D, Rajendran A, Pearson E, Stone EM, Zhang K, Pierce EA (2007) The R345W mutation in EFEMP1 is pathogenic and causes AMD-like deposits in mice. Hum Mol Genet 16:2411-2422
29. Leng T, Rosenfeld PJ, Gregori G, Puliafito CA, Punjabi OS (2009) Spectral domain optical coherence tomography characteristics of cuticular drusen. Retina 29:988-993
30. Querques G, Guigui B, Leveziel N, Querques L, Coscas G, Soubrane G, Souied EH (2011) Insights into pathology of cuticular drusen from integrated confocal scanning laser ophthalmoscopy imaging and corresponding spectral domain optical coherence tomography. Graefes Arch Clin Exp Ophthalmol 249:1617-1625
31. Evans K, Gregory CY, Wijesuriya SD, Kermani S, Jay MR, Plant C, Bird AC (1997) Assessment of the phenotypic range seen in doyne honeycomb retinal dystrophy. Arch Ophthalmol 115:904-910
32. Gass JDM, Jallow S, Davis B (1985) Adult vitelliform macular detachment occurring in patients with basal laminar drusen. Am J Ophthalmol 99:445-459