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Heritability of retinal drusen in the Copenhagen Twin Cohort Eye Study

PURPOSE: To study age‐ and sex‐adjusted heritability of small hard drusen and early age‐related macular degeneration (AMD) in a population‐based twin cohort. METHODS: This was a single‐centre, cross‐sectional, classical twin study with ophthalmic examination including refraction, biometry, best‐corr...

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Autores principales: Belmouhand, Mohamed, Rothenbuehler, Simon Paul, Hjelmborg, Jacob B., Dabbah, Sami, Bjerager, Jakob, Sander, Birgit Agnes, Dalgård, Christine, Larsen, Michael
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9790204/
https://www.ncbi.nlm.nih.gov/pubmed/35322936
http://dx.doi.org/10.1111/aos.15136
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author Belmouhand, Mohamed
Rothenbuehler, Simon Paul
Hjelmborg, Jacob B.
Dabbah, Sami
Bjerager, Jakob
Sander, Birgit Agnes
Dalgård, Christine
Larsen, Michael
author_facet Belmouhand, Mohamed
Rothenbuehler, Simon Paul
Hjelmborg, Jacob B.
Dabbah, Sami
Bjerager, Jakob
Sander, Birgit Agnes
Dalgård, Christine
Larsen, Michael
author_sort Belmouhand, Mohamed
collection PubMed
description PURPOSE: To study age‐ and sex‐adjusted heritability of small hard drusen and early age‐related macular degeneration (AMD) in a population‐based twin cohort. METHODS: This was a single‐centre, cross‐sectional, classical twin study with ophthalmic examination including refraction, biometry, best‐corrected visual acuity assessment, colour and autofluorescence fundus photography, and fundus optical coherence tomography. Grading and categorization of drusen was by diameter and location. RESULTS: The study enrolled 176 same‐sex pairs of twins of mean (SD) age 58.6 (9.9) years. The prevalence of the four phenotypes ≥20 small hard macular drusen (largest diameter < 63 μm), ≥20 small hard extramacular drusen, intermediate drusen (63–125 μm) anywhere, and large drusen (>125 μm) anywhere was 12.4%, 36.4%, 5.8%, and 8.4%, respectively, and the respective heritabilities, adjusted for age and sex, were 78.2% [73.5–82.9], 69.1% [62.3–75.9], 30.1% [4.1–56.1], and 65.6% [26.4–100]. Age trajectory analysis supported a gradual transition to larger numbers of small hard drusen with increasing age. The heritability of ≥20 small hard drusen was markedly lower than the 99% found in the 40% overlapping twin cohort that was seen 20 years earlier. CONCLUSION: Numerous (≥20) small hard drusen and larger drusen that fit the definition of dry AMD were highly heritable. Small hard drusen counts increased with age. Decreasing heritability with increasing age suggests that the impact of behavioural and environmental factors on the development of small hard drusen increases with age.
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spelling pubmed-97902042022-12-28 Heritability of retinal drusen in the Copenhagen Twin Cohort Eye Study Belmouhand, Mohamed Rothenbuehler, Simon Paul Hjelmborg, Jacob B. Dabbah, Sami Bjerager, Jakob Sander, Birgit Agnes Dalgård, Christine Larsen, Michael Acta Ophthalmol Original Articles PURPOSE: To study age‐ and sex‐adjusted heritability of small hard drusen and early age‐related macular degeneration (AMD) in a population‐based twin cohort. METHODS: This was a single‐centre, cross‐sectional, classical twin study with ophthalmic examination including refraction, biometry, best‐corrected visual acuity assessment, colour and autofluorescence fundus photography, and fundus optical coherence tomography. Grading and categorization of drusen was by diameter and location. RESULTS: The study enrolled 176 same‐sex pairs of twins of mean (SD) age 58.6 (9.9) years. The prevalence of the four phenotypes ≥20 small hard macular drusen (largest diameter < 63 μm), ≥20 small hard extramacular drusen, intermediate drusen (63–125 μm) anywhere, and large drusen (>125 μm) anywhere was 12.4%, 36.4%, 5.8%, and 8.4%, respectively, and the respective heritabilities, adjusted for age and sex, were 78.2% [73.5–82.9], 69.1% [62.3–75.9], 30.1% [4.1–56.1], and 65.6% [26.4–100]. Age trajectory analysis supported a gradual transition to larger numbers of small hard drusen with increasing age. The heritability of ≥20 small hard drusen was markedly lower than the 99% found in the 40% overlapping twin cohort that was seen 20 years earlier. CONCLUSION: Numerous (≥20) small hard drusen and larger drusen that fit the definition of dry AMD were highly heritable. Small hard drusen counts increased with age. Decreasing heritability with increasing age suggests that the impact of behavioural and environmental factors on the development of small hard drusen increases with age. John Wiley and Sons Inc. 2022-03-24 2022-12 /pmc/articles/PMC9790204/ /pubmed/35322936 http://dx.doi.org/10.1111/aos.15136 Text en © 2022 The Authors. Acta Ophthalmologica published by John Wiley & Sons Ltd on behalf of Acta Ophthalmologica Scandinavica Foundation. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Original Articles
Belmouhand, Mohamed
Rothenbuehler, Simon Paul
Hjelmborg, Jacob B.
Dabbah, Sami
Bjerager, Jakob
Sander, Birgit Agnes
Dalgård, Christine
Larsen, Michael
Heritability of retinal drusen in the Copenhagen Twin Cohort Eye Study
title Heritability of retinal drusen in the Copenhagen Twin Cohort Eye Study
title_full Heritability of retinal drusen in the Copenhagen Twin Cohort Eye Study
title_fullStr Heritability of retinal drusen in the Copenhagen Twin Cohort Eye Study
title_full_unstemmed Heritability of retinal drusen in the Copenhagen Twin Cohort Eye Study
title_short Heritability of retinal drusen in the Copenhagen Twin Cohort Eye Study
title_sort heritability of retinal drusen in the copenhagen twin cohort eye study
topic Original Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9790204/
https://www.ncbi.nlm.nih.gov/pubmed/35322936
http://dx.doi.org/10.1111/aos.15136
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