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Heredity of small hard drusen in twins aged 20-46 years

Munch, Inger Christine ; Sander, Birgit ; Kessel, Line ; Hougaard, Jesper Leth LU ; Taarnhøj, Nina Charlotte Bille Brahe ; Sørensen, Thorkild I A ; Kyvik, Kirsten Ohm and Larsen, Michael (2007) In Investigative Ophthalmology & Visual Science 48(2). p.833-838
Abstract
Purpose. To examine the prevalence and heredity of small hard drusen in 220 healthy twins aged 20–46 years.methods. Grayscale digital fundus photography, four-field 50° nonstereoscopic, in red-free illumination was performed in 58 pairs of monozygotic (MZ) twins and 52 pairs of dizygotic (DZ) twins as part of a detailed biometric characterization. Small hard drusen (diameters, <63 μm) were counted and graded by distribution type.results. Small hard drusen were present in 212 of the 220 subjects. Five or more drusen per eye were found in 89 subjects, in three patterns of distribution: scattered drusen (66 subjects), macular drusen (18 subjects), and stippled, innumerable drusen (5 subjects). When analyzed as a continuous trait, the... (More)
Purpose. To examine the prevalence and heredity of small hard drusen in 220 healthy twins aged 20–46 years.methods. Grayscale digital fundus photography, four-field 50° nonstereoscopic, in red-free illumination was performed in 58 pairs of monozygotic (MZ) twins and 52 pairs of dizygotic (DZ) twins as part of a detailed biometric characterization. Small hard drusen (diameters, <63 μm) were counted and graded by distribution type.results. Small hard drusen were present in 212 of the 220 subjects. Five or more drusen per eye were found in 89 subjects, in three patterns of distribution: scattered drusen (66 subjects), macular drusen (18 subjects), and stippled, innumerable drusen (5 subjects). When analyzed as a continuous trait, the heritability of small hard drusen was 63% (95% confidence interval [CI], 43% to 77%). More than 20 drusen per eye were found in 26 subjects, and the heritability of this phenotype was 99% (95% CI, 82% to 100%).conclusions. Hard drusen are prevalent in young adults, and having more than 20 drusen per eye is a highly hereditary feature. Additional research is needed to determine whether the presence of small hard drusen correlates with the development of age-related macular degeneration later in life and to explore the relation to AMD genotypes. (Less)
Abstract (Swedish)
Abstract
PURPOSE: To examine the prevalence and heredity of small hard drusen in 220 healthy twins aged 20-46 years. METHODS: Grayscale digital fundus photography, four-field 50 degrees nonstereoscopic, in red-free illumination was performed in 58 pairs of monozygotic (MZ) twins and 52 pairs of dizygotic (DZ) twins as part of a detailed biometric characterization. Small hard drusen (diameters, <63 microm) were counted and graded by distribution type. RESULTS:
Small hard drusen were present in 212 of the 220 subjects. Five or more drusen per eye were found in 89 subjects, in three patterns of distribution: scattered drusen (66 subjects), macular drusen (18 subjects), and stippled, innumerable drusen (5 subjects). When analyzed as... (More)
Abstract
PURPOSE: To examine the prevalence and heredity of small hard drusen in 220 healthy twins aged 20-46 years. METHODS: Grayscale digital fundus photography, four-field 50 degrees nonstereoscopic, in red-free illumination was performed in 58 pairs of monozygotic (MZ) twins and 52 pairs of dizygotic (DZ) twins as part of a detailed biometric characterization. Small hard drusen (diameters, <63 microm) were counted and graded by distribution type. RESULTS:
Small hard drusen were present in 212 of the 220 subjects. Five or more drusen per eye were found in 89 subjects, in three patterns of distribution: scattered drusen (66 subjects), macular drusen (18 subjects), and stippled, innumerable drusen (5 subjects). When analyzed as a continuous trait, the heritability of small hard drusen was 63% (95% confidence interval [CI], 43% to 77%). More than 20 drusen per eye were found in 26 subjects, and the heritability of this phenotype was 99% (95% CI, 82% to 100%). CONCLUSIONS: Hard drusen are prevalent in young adults, and having more than 20 drusen per eye is a highly hereditary feature. Additional research is needed to determine whether the presence of small hard drusen correlates with the development of age-related macular degeneration later in life and to explore the relation to AMD genotypes. (Less)
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author
publishing date
type
Contribution to journal
publication status
published
subject
in
Investigative Ophthalmology & Visual Science
volume
48
issue
2
pages
833 - 838
publisher
ASSOC RESEARCH VISION OPHTHALMOLOGY INC
ISSN
1552-5783
DOI
10.1167/iovs.06-0529
language
English
LU publication?
no
id
e3d0d6ef-745b-4cec-9f18-6b54feaee614
date added to LUP
2019-06-13 12:50:28
date last changed
2019-09-13 04:01:14
@article{e3d0d6ef-745b-4cec-9f18-6b54feaee614,
  abstract     = { Purpose. To examine the prevalence and heredity of small hard drusen in 220 healthy twins aged 20–46 years.methods. Grayscale digital fundus photography, four-field 50° nonstereoscopic, in red-free illumination was performed in 58 pairs of monozygotic (MZ) twins and 52 pairs of dizygotic (DZ) twins as part of a detailed biometric characterization. Small hard drusen (diameters, &lt;63 μm) were counted and graded by distribution type.results. Small hard drusen were present in 212 of the 220 subjects. Five or more drusen per eye were found in 89 subjects, in three patterns of distribution: scattered drusen (66 subjects), macular drusen (18 subjects), and stippled, innumerable drusen (5 subjects). When analyzed as a continuous trait, the heritability of small hard drusen was 63% (95% confidence interval [CI], 43% to 77%). More than 20 drusen per eye were found in 26 subjects, and the heritability of this phenotype was 99% (95% CI, 82% to 100%).conclusions. Hard drusen are prevalent in young adults, and having more than 20 drusen per eye is a highly hereditary feature. Additional research is needed to determine whether the presence of small hard drusen correlates with the development of age-related macular degeneration later in life and to explore the relation to AMD genotypes.},
  author       = {Munch, Inger Christine and Sander, Birgit and Kessel, Line and Hougaard, Jesper Leth and Taarnhøj, Nina Charlotte Bille Brahe and Sørensen, Thorkild I A and Kyvik, Kirsten Ohm and Larsen, Michael},
  issn         = {1552-5783},
  language     = {eng},
  number       = {2},
  pages        = {833--838},
  publisher    = {ASSOC RESEARCH VISION OPHTHALMOLOGY INC},
  series       = {Investigative Ophthalmology & Visual Science},
  title        = {Heredity of small hard drusen in twins aged 20-46 years},
  url          = {http://dx.doi.org/10.1167/iovs.06-0529},
  doi          = {10.1167/iovs.06-0529},
  volume       = {48},
  year         = {2007},
}