Computational quantification of complex fundus phenotypes in age-related macular degeneration and stargardt disease

Investigative Ophthalmology and Visual Science

Volumn 52, Issue 6, 2011, Pages 2976-2981

  Quellec, Gwenole ^a,b   Russel, Stephen R ^a,b   Scheetz, Todd E ^a,b   Stone, Edwin M ^a,b   Abrámoff, Michael D ^a,b,c  

^a UNIVERSITY OF IOWA HOSPITALS AND CLINICS   (United States)

^b UNIVERSITY OF IOWA   (United States)

^c VETERANS AFFAIRS MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ABCA4 GENE; AREA UNDER THE CURVE; ARTICLE; AUTOMATION; CLASSIFICATION; CLINICAL ARTICLE; DIAGNOSTIC TEST ACCURACY STUDY; DIFFERENTIAL DIAGNOSIS; DRUSEN; EYE FUNDUS; EYE FUNDUS FLECK; EYE PHOTOGRAPHY; GENE; HUMAN; IMAGE ANALYSIS; PHENOTYPE; PISCIFORM LESION; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; RECEIVER OPERATING CHARACTERISTIC; RETINA MACULA AGE RELATED DEGENERATION; SENSITIVITY AND SPECIFICITY; STARGARDT DISEASE;

ATP-BINDING CASSETTE TRANSPORTERS; COMPUTATIONAL BIOLOGY; CORNEAL DYSTROPHIES, HEREDITARY; FUNDUS OCULI; HUMANS; IMAGE INTERPRETATION, COMPUTER-ASSISTED; MACULAR DEGENERATION; MIDDLE AGED; PHENOTYPE; PHOTOGRAPHY; RETINAL DRUSEN; RETROSPECTIVE STUDIES; ROC CURVE;

EID: 79956016755     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.10-6232     Document Type: Article

References (34)

1. Koenekoop RK. The gene for Stargardt disease, ABCA4, is a major retinal gene: a mini-review. Ophthalmic Genet. 2003;24(2):75-80.
2. Walia S, Fishman GA. Natural history of phenotypic changes in Stargardt macular dystrophy. Ophthalmic Genet. 2009;30(2): 63-68.
3. Ayyagari R, Zhang K, Hutchinson A, et al. Evaluation of the ELOVL4 gene in patients with age-related macular degeneration. Ophthalmic Genet. 2001;22(4):233-239.
4. Baird PN, Guida E, Chu DT, Vu HT, Guymer RH. The 2 and 4 alleles of the apolipoprotein gene are associated with age-related macular degeneration. Invest Ophthalmol Vis Sci. 2004;45:1311-1315.
5. Dewan A, Liu M, Hartman S, et al. HTRA1 promoter polymorphism in wet age-related macular degeneration. Science. 2006;314(5801):989-992.
6. Edwards AO, Ritter R III, Abel KJ, Manning A, Panhuysen C, Farrer LA. Complement factor H polymorphism and age-related macular degeneration Science. 2005;308(5720):421-424.
7. Fisher SA, Santangelo SL, Weeks DE, et al. Meta-analysis of genome scans of age-related macular degeneration. Hum Mol Genet. 2005; 14(15):2257-2264.
8. Hageman GS, Anderson DH, Johnson LV, et al. A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration Proc Natl Acad Sci. 2005;102(20):7227-7232.
9. Haines JL, Hauser MA, Schmidt S, et al. Complement factor H variant increases the risk of age-related macular degeneration. Science. 2005;308(5720):419-421.
10. Jakobsdottir J, Conley YP, Weeks DE, Mah TS, Ferrell RE, Gorin MB. Susceptibility genes for age-related macular degeneration on choromosome 10q26. Am J Hum Genet. 2006;77(3):389-407
11. Klein RJ, Zeiss C, Chew EY, et al. Complement factor H polymorphism n age-related macular degeneration. Science. 2005; 308(5720):385-389.
12. Rivera A, Fisher SA, Fritsche LG, et al. Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk. Hum Mol Genet. 2005;14(21):3227-3236.
13. Schultz DW, Klein ML, Humpert AJ, et al. Analysis of the ARMD1 locus: evidence that a mutation in HEMICENTIN-1 is associated with age-related macular degeneration in a large family. Hum Mol Genet. 2003;12(24):3315-3323.
14. Stone EM, Braun TA, Russell SR, et al. Missense variations in the fibulin 5 gene in association with age-related macular degeneration. N Engl J Med. 2004;351:20-27.
15. Yang Z, Camp NJ, Sun H, et al. A variant of the HTRA1 gene increases susceptibility to age-related macular degeneration. Science.2006;314(5801):992-993.
16. Zareparsi S, Buraczynska M, Branham KE, et al. Toll-like receptor 4 variant D299G is associated with susceptibility to age-related macular degeneration. Hum Mol Genet. 2005;14(11):1449-1455.
17. Gold B, Merriam JE, Zernant J, et al. Variation in factor B (BF) and complement component 2 (C2) genes is associated with agerelated macular degeneration. Nat Genet. 2006;38(4):458-462.
18. Fagerness JA, Maller JB, Neale BM, Reynolds RC, Daly MJ, Seddon JM. Variation near complement factor I is associated with risk of advanced AMD. Eur J Hum Genet. 2009;17(1):100-104.
19. Haddad S, Chen CA, Santangelo SL, Seddon JM. The genetics of age-related macular degeneration: a review of progress to date. Surv Ophthalmol. 2006;51(4):316-363.
20. Maller J, George S, Purcell S, et al. Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration. Nat Genet. 2006;38(9):1055-1059.
21. Maller JB, Fagerness JA, Reynolds RC, Neale BM, Daly MJ, Seddon JM. Variation in complement factor 3 is associated with risk of age-related macular degeneration. Nat Genet. 2007;39(10):1200-1201.
22. Barthes A, Conrath J, Rasigni M, Adel M, Petrakian JP. Mathematical morphology in computerized analysis of angiograms in age-related macular degeneration. Med Phys. 2001;28(12):2410-2419.
23. Rapantzikos K, Zervakis M, Balas K. Detection and segmentation of drusen deposits on human retina: potential in the diagnosis of age-related macular degeneration. Med Image Anal. 2003;7(1):95-108.
24. Smith RT, Chan JK, Nagasaki T, et al. Automated detection of macular drusen using geometric background leveling and threshold selection. Arch Ophthalmol. 2005;123(2):200-206.
25. Niemeijer M, van Ginneken B, Russell SR, Suttorp-Schulten MS, Abramoff MD. Automated detection and differentiation of drusen, exudates, and cotton-wool spots in digital color fundus photographs for diabetic retinopathy diagnosis. Invest Ophthalmol Vis Sci. 2007;48(5):2260-2267.
26. Abramoff MD, Alward WL, Greenlee EC, et al. Automated segmentation of the optic disc from stereo color photographs using physiologically plausible features. Invest Ophthalmol Vis Sci. 2007;48(4):1665-1673.
27. Schindler EI, Nylen EL, Ko AC, et al. Deducing the pathogenic contribution of recessive ABCA4 alleles in an outbred population. Hum Mol Genet. 2010;19:3693-3701.
28. Quellec G, Lamard M, Josselin PM, Cazuguel G, Cochener B, Roux C. Optimal wavelet transform for the detection of microaneurysms in retina photographs. IEEE Trans Med Imaging. 2008;27(9): 1230-1241.
29. Abramoff MD, Reinhardt JM, Russell SR, et al. Automated early detection of diabetic retinopathy. Ophthalmology. 2010;117(6): 1147-1154.
30. Abramoff MD, Garvin M, Sonka M. Retinal imaging and image analysis. IEEE Rev Biomed Eng. 2010;3:169-208.
31. Arya S, Mount D, Netanyahu N, Silverman R, Wu A. An optimal algorithm for approximate nearest neighbor searching in fixed dimensions. J ACM. 1998;45(6):891-923.
32. Ebdon D. Statistics in Geography. 2nd ed. Oxford Oxfordshire; New York: Blackwell Scientific; 1985:232
33. Seddon JM, Cote J, Page WF, Aggen SH, Neale MC. The US twin study of age-related macular degeneration: relative roles of genetic and environmental influences. Arch Ophthalmol. 2005;123(3):321-327.
34. Fleming AD, Philip S, Goatman KA, Williams GJ, Olson JA, Sharp PF. Automated detection of exudates for diabetic retinopathy screening. Phys Med Biol. 2007;52(24):7385-7396.