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Genetic Epidemiology of Age-Related Macular Degeneration in the Older Order Amish

Description: PUBLIC HEALTH RELEVANCE: Identification of the genes for Age-related Macular Degeneration has made remarkable progress. Still, there is a need to discover more genes that can inform additional biological pathways beyond the complement system. There is also an urgency to identify early anatomical defects that can be used as biomarkers for progression of disease. This proposal aims to define the early clinical signs of Age-related Macular Degeneration and identify rare variants with large impact on disease progression to both improve patient care and our overall understanding of Age-related Macular Degeneration.
Funding type: research
Funder scheme: R01
Start date: 2013-02-01
End date: 2019-01-31
Investigator: MARGARET A. PERICAK-VANCE
Institution: UNIVERSITY OF PENNSYLVANIA
Subfield: Ophthalmology
Field: Medicine
Funded outputs count: 35
Funder award ID: R01EY023164
OpenAlex ID: G2201966464
OCT Risk Factors for Progression to Late-Stage Age-Related Macular Degeneration in the Amish Eye Study
2026 · Yu-Chien Chung, Mai Alhelaly, et al. · Ophthalmology Retina · 4
Spatial distribution of Intra-retinal Hyper-reflective foci and impact on progression in eyes with intermediate Age-related macular degeneration
2025 · Aditya Verma, Muneeswar G. Nittala, et al. · Graefe s Archive for Clinical and Experimental Ophthalmology · 3
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Accurate prediction of disease-risk factors from volumetric medical scans by a deep vision model pre-trained with 2D scans
2024 · Oren Avram, Berkin Durmus, et al. · Nature Biomedical Engineering · 17
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Prediction of Long-Term Treatment Outcomes for Diabetic Macular Edema Using a Generative Adversarial Network
2024 · Jiwon Baek, Ye He, et al. · Translational Vision Science & Technology · 15
Optical Coherence Tomography Features of Macular Hyperpigmented Lesions without Intraretinal Hyperreflective Foci in Age-Related Macular Degeneration
2023 · Mehdi Emamverdi, Abbas Habibi, et al. · Current Eye Research · 10
Assessment of intraretinal hyperreflective foci using multimodal imaging in eyes with age‐related macular degeneration
2023 · Deniz Oncel, Giulia Corradetti, et al. · Acta Ophthalmologica · 12
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Drusen morphometrics on optical coherence tomography in eyes with age-related macular degeneration and normal aging
2023 · Deniz Oncel, Giulia Corradetti, et al. · Graefe s Archive for Clinical and Experimental Ophthalmology · 12
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Enhanced Detection of Reticular Pseudodrusen on Color Fundus Photos by Image Embossing
2022 · Shin Kadomoto, Onisa Nanegrungsunk, et al. · Current Eye Research · 5
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Consequences of a Rare Complement Factor H Variant for Age-Related Macular Degeneration in the Amish
2022 · Andrea R. Waksmunski, Kristy Miskimen, et al. · Investigative Ophthalmology & Visual Science · 1
Genomewide Association Study of Retinal Traits in the Amish Reveals Loci Influencing Drusen Development and Link to Age-Related Macular Degeneration
2022 · Michael D. Osterman, Yeunjoo E. Song, et al. · Investigative Ophthalmology & Visual Science · 7
Effect of OCT B-Scan Density on Sensitivity for Detection of Intraretinal Hyperreflective Foci in Eyes with Age-Related Macular Degeneration
2022 · Deniz Oncel, Navid Manafi, et al. · Current Eye Research · 7
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Evaluating a Causal Relationship between Complement Factor I Protein Level and Advanced Age-Related Macular Degeneration Using Mendelian Randomization
2022 · Amy V. Jones, Stuart MacGregor, et al. · Ophthalmology Science · 17
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Automated identification of clinical features from sparsely annotated 3-dimensional medical imaging
2021 · Nadav Rakocz, Jeffrey N. Chiang, et al. · npj Digital Medicine · 22
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Retinal Sensitivity Using Microperimetry in Age-Related Macular Degeneration in an Amish Population
2019 · Muneeswar G. Nittala, Swetha Bindu Velaga, et al. · Ophthalmic surgery, lasers & imaging retina · 12
Rare variants and loci for age-related macular degeneration in the Ohio and Indiana Amish
2019 · Andrea R. Waksmunski, Robert P. Igo, et al. · Human Genetics · 6
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AMISH EYE STUDY
2018 · Muneeswar G. Nittala, Yeunjoo E. Song, et al. · Retina · 26
Imaging Lenticular Autofluorescence in Older Subjects
2017 · Jason Charng, Rose Tan, et al. · Investigative Ophthalmology & Visual Science · 15
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Genetics of age-related macular degeneration (AMD)
2017 · Margaret M. DeAngelis, Leah A. Owen, et al. · Human Molecular Genetics · 48
A population-specific reference panel empowers genetic studies of Anabaptist populations
2017 · Liping Hou, Rachel L. Kember, et al. · Scientific Reports · 18
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RNA expression in human retina
2017 · Mingyao Li, Randy J. Zauhar, et al. · Human Molecular Genetics · 13
Genetics of age-related macular degeneration (AMD)
2017 · Margaret M. DeAngelis, Leah A. Owen, et al. · Human Molecular Genetics · 164
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Association of Drusen Volume With Choroidal Parameters in Nonneovascular Age-related Macular Degeneration
2017 · Siva Balasubramanian, Jianqin Lei, et al. · Retina · 7
Heritability of Choroidal Thickness in the Amish
2016 · Rebecca J. Sardell, Muneeswar G. Nittala, et al. · Ophthalmology · 30
Sequence and Expression of Complement Factor H Gene Cluster Variants and Their Roles in Age-Related Macular Degeneration Risk
2016 · Anne E. Hughes, Stephen Bridgett, et al. · Investigative Ophthalmology & Visual Science · 16
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DNA variants in CACNA1C modify Parkinson disease risk only when vitamin D level is deficient
2016 · Liyong Wang, Lizmarie Maldonado, et al. · Neurology Genetics · 14
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