Small, hard macular drusen and peripheral drusen: associations with AMD genotypes in the Inter99 Eye Study

Inger Christine Munch; Jakob Ek; Line Kessel; Birgit Sander; Gitte Juul Almind; Karen Brøndum-Nielsen; Allan Linneberg; Michael Larsen; Inger Christine Munch; Jakob Ek; Line Kessel; Birgit Sander; Gitte Juul Almind; Karen Brøndum-Nielsen; Allan Linneberg; Michael Larsen

doi:10.1167/iovs.09-4482

Small, hard macular drusen and peripheral drusen: associations with AMD genotypes in the Inter99 Eye Study

Inger Christine Munch, Jakob Ek, Line Kessel, Birgit Sander, Gitte Juul Almind, Karen Brøndum-Nielsen, Allan Linneberg, Michael Larsen, Inger Christine Munch, Jakob Ek, Line Kessel, Birgit Sander, Gitte Juul Almind, Karen Brøndum-Nielsen, Allan Linneberg, Michael Larsen

29 Citations (Scopus)

Abstract

Purpose. To study associations of small, hard macular drusen and peripheral drusen with genotypes associated with agerelated macular degeneration (AMD). Methods. Digital grayscale fundus photographs recorded in red-free illumination were graded for the presence of drusen in 1107 subjects aged 30 to 66 years. Participants were genotyped for AMD-related polymorphisms in complement factor H (CFH), in LOC387715, and in complement factor B (CFB). Results. The prevalence of 20 or more small, hard macular drusen per eye was 14%, with no association to the investigated polymorphisms. Peripheral drusen were associated with CFHY402H (odds ratio [OR], 4.3; 95% confidence interval [95% CI], 1.4 -13, for CC versus TT genotypes) as was macular drusen >63 μm (OR, 1.9; 95% CI, 1.1-3.1, for CC versus TT genotypes). Macular drusen >63 μm were associated with the presence of 20 or more small, hard macular drusen (OR, 1.7; 95% CI, 1.1-2.6) and with peripheral drusen (OR, 2.5; 95% CI,1.2-5.4) Conclusions. In this study, the presence of 20 or more small, hard macular drusen per eye was not associated with known AMD-related polymorphisms, whereas the study confirmed an association of peripheral drusen with CFHY402H.

Original language	English
Journal	Investigative Ophthalmology & Visual Science
Volume	51
Issue number	5
Pages (from-to)	2317-21
Number of pages	5
ISSN	0146-0404
DOIs	https://doi.org/10.1167/iovs.09-4482
Publication status	Published - 1 May 2010

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https://iovs.arvojournals.org/data/journals/iovs/933454/z7g00510002317.pdf

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Munch, I. C., Ek, J., Kessel, L., Sander, B., Almind, G. J., Brøndum-Nielsen, K., Linneberg, A., Larsen, M., Munch, I. C., Ek, J., Kessel, L., Sander, B., Almind, G. J., Brøndum-Nielsen, K., Linneberg, A., & Larsen, M. (2010). Small, hard macular drusen and peripheral drusen: associations with AMD genotypes in the Inter99 Eye Study. Investigative Ophthalmology & Visual Science, 51(5), 2317-21. https://doi.org/10.1167/iovs.09-4482

Munch, IC, Ek, J, Kessel, L, Sander, B, Almind, GJ, Brøndum-Nielsen, K, Linneberg, A , Larsen, M, Munch, IC, Ek, J, Kessel, L, Sander, B, Almind, GJ, Brøndum-Nielsen, K, Linneberg, A & Larsen, M 2010, 'Small, hard macular drusen and peripheral drusen: associations with AMD genotypes in the Inter99 Eye Study', Investigative Ophthalmology & Visual Science, vol. 51, no. 5, pp. 2317-21. https://doi.org/10.1167/iovs.09-4482

@article{95f1c54088cc11df928f000ea68e967b,

title = "Small, hard macular drusen and peripheral drusen: associations with AMD genotypes in the Inter99 Eye Study",

abstract = "Purpose. To study associations of small, hard macular drusen and peripheral drusen with genotypes associated with agerelated macular degeneration (AMD). Methods. Digital grayscale fundus photographs recorded in red-free illumination were graded for the presence of drusen in 1107 subjects aged 30 to 66 years. Participants were genotyped for AMD-related polymorphisms in complement factor H (CFH), in LOC387715, and in complement factor B (CFB). Results. The prevalence of 20 or more small, hard macular drusen per eye was 14%, with no association to the investigated polymorphisms. Peripheral drusen were associated with CFHY402H (odds ratio [OR], 4.3; 95% confidence interval [95% CI], 1.4 -13, for CC versus TT genotypes) as was macular drusen >63 μm (OR, 1.9; 95% CI, 1.1-3.1, for CC versus TT genotypes). Macular drusen >63 μm were associated with the presence of 20 or more small, hard macular drusen (OR, 1.7; 95% CI, 1.1-2.6) and with peripheral drusen (OR, 2.5; 95% CI,1.2-5.4) Conclusions. In this study, the presence of 20 or more small, hard macular drusen per eye was not associated with known AMD-related polymorphisms, whereas the study confirmed an association of peripheral drusen with CFHY402H.",

author = "Munch, {Inger Christine} and Jakob Ek and Line Kessel and Birgit Sander and Almind, {Gitte Juul} and Karen Br{\o}ndum-Nielsen and Allan Linneberg and Michael Larsen and Munch, {Inger Christine} and Jakob Ek and Line Kessel and Birgit Sander and Almind, {Gitte Juul} and Karen Br{\o}ndum-Nielsen and Allan Linneberg and Michael Larsen",

note = "Keywords: Adult; Aged; Complement Factor B; Complement Factor H; Female; Genotype; Humans; Macular Degeneration; Male; Middle Aged; Phenotype; Polymorphism, Single Nucleotide; Proteins; Retinal Drusen",

year = "2010",

month = may,

day = "1",

doi = "10.1167/iovs.09-4482",

language = "English",

volume = "51",

pages = "2317--21",

journal = "Investigative Ophthalmology & Visual Science",

issn = "0146-0404",

publisher = "Association for Research in Vision and Ophthalmology",

number = "5",

}

TY - JOUR

T1 - Small, hard macular drusen and peripheral drusen: associations with AMD genotypes in the Inter99 Eye Study

AU - Munch, Inger Christine

AU - Ek, Jakob

AU - Kessel, Line

AU - Sander, Birgit

AU - Almind, Gitte Juul

AU - Brøndum-Nielsen, Karen

AU - Linneberg, Allan

AU - Larsen, Michael

AU - Munch, Inger Christine

AU - Ek, Jakob

AU - Kessel, Line

AU - Sander, Birgit

AU - Almind, Gitte Juul

AU - Brøndum-Nielsen, Karen

AU - Linneberg, Allan

AU - Larsen, Michael

N1 - Keywords: Adult; Aged; Complement Factor B; Complement Factor H; Female; Genotype; Humans; Macular Degeneration; Male; Middle Aged; Phenotype; Polymorphism, Single Nucleotide; Proteins; Retinal Drusen

PY - 2010/5/1

Y1 - 2010/5/1

N2 - Purpose. To study associations of small, hard macular drusen and peripheral drusen with genotypes associated with agerelated macular degeneration (AMD). Methods. Digital grayscale fundus photographs recorded in red-free illumination were graded for the presence of drusen in 1107 subjects aged 30 to 66 years. Participants were genotyped for AMD-related polymorphisms in complement factor H (CFH), in LOC387715, and in complement factor B (CFB). Results. The prevalence of 20 or more small, hard macular drusen per eye was 14%, with no association to the investigated polymorphisms. Peripheral drusen were associated with CFHY402H (odds ratio [OR], 4.3; 95% confidence interval [95% CI], 1.4 -13, for CC versus TT genotypes) as was macular drusen >63 μm (OR, 1.9; 95% CI, 1.1-3.1, for CC versus TT genotypes). Macular drusen >63 μm were associated with the presence of 20 or more small, hard macular drusen (OR, 1.7; 95% CI, 1.1-2.6) and with peripheral drusen (OR, 2.5; 95% CI,1.2-5.4) Conclusions. In this study, the presence of 20 or more small, hard macular drusen per eye was not associated with known AMD-related polymorphisms, whereas the study confirmed an association of peripheral drusen with CFHY402H.

AB - Purpose. To study associations of small, hard macular drusen and peripheral drusen with genotypes associated with agerelated macular degeneration (AMD). Methods. Digital grayscale fundus photographs recorded in red-free illumination were graded for the presence of drusen in 1107 subjects aged 30 to 66 years. Participants were genotyped for AMD-related polymorphisms in complement factor H (CFH), in LOC387715, and in complement factor B (CFB). Results. The prevalence of 20 or more small, hard macular drusen per eye was 14%, with no association to the investigated polymorphisms. Peripheral drusen were associated with CFHY402H (odds ratio [OR], 4.3; 95% confidence interval [95% CI], 1.4 -13, for CC versus TT genotypes) as was macular drusen >63 μm (OR, 1.9; 95% CI, 1.1-3.1, for CC versus TT genotypes). Macular drusen >63 μm were associated with the presence of 20 or more small, hard macular drusen (OR, 1.7; 95% CI, 1.1-2.6) and with peripheral drusen (OR, 2.5; 95% CI,1.2-5.4) Conclusions. In this study, the presence of 20 or more small, hard macular drusen per eye was not associated with known AMD-related polymorphisms, whereas the study confirmed an association of peripheral drusen with CFHY402H.

U2 - 10.1167/iovs.09-4482

DO - 10.1167/iovs.09-4482

M3 - Journal article

C2 - 20007824

SN - 0146-0404

VL - 51

SP - 2317

EP - 2321

JO - Investigative Ophthalmology & Visual Science

JF - Investigative Ophthalmology & Visual Science

IS - 5

ER -

Small, hard macular drusen and peripheral drusen: associations with AMD genotypes in the Inter99 Eye Study

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