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David A Mackey

Explore the profile of David A Mackey including associated specialties, affiliations and a list of published articles. Areas
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Articles 472
Citations 11493
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Recent Articles
1.
Le N, He W, Law M, Medland S, Mackey D, Hewitt A, et al.
Am J Ophthalmol . 2025 Mar; PMID: 40064388
Objective: Rare variants in the MYOC gene are associated with glaucoma risk, with p.Gln368Ter the most common pathogenic variant in Europeans. Genetics-based risk stratification may aid with early diagnosis for...
2.
Kolovos A, Qassim A, Hassall M, Marshall H, Schmidt J, Nguyen T, et al.
Ophthalmology . 2025 Feb; PMID: 40010646
Objective: Pseudoexfoliation syndrome (PEX) is a known risk factor for glaucoma, but its individual clinical course ranges from no glaucoma to total blindness. This study investigated whether polygenic risk scores...
3.
Kearns L, Staffieri S, Mackey D
Clin Exp Ophthalmol . 2025 Feb; PMID: 39895156
With the increased availability of genetic testing and the addition of mitochondrial genetic variants on disease panels, accurate genetic counselling for individuals and families affected by, or at risk of,...
4.
Mackey D, Staffieri S, Lopez Sanchez M, Kearns L
Ophthalmic Genet . 2025 Jan; 1-9. PMID: 39833125
Aim: Leber hereditary optic neuropathy (LHON) predominantly manifests during adolescence or young adulthood, resulting in sudden and profound vision loss in individuals who previously had normal vision. This abrupt change...
5.
Lee S, Stapleton F, Macgregor S, Mackey D
Br J Ophthalmol . 2024 Dec; PMID: 39622623
Genetic information will be increasingly integrated into clinical eye care within the current generation of ophthalmologists. For monogenic diseases such as retinoblastoma, genetic studies have been relatively straightforward as these...
6.
He W, Lee S, Torres S, Han X, Gharahkhani P, Hunter M, et al.
JAMA Ophthalmol . 2024 Nov; 143(1):15-22. PMID: 39570582
Importance: Early detection of glaucoma is essential to timely monitoring and treatment, and primary open-angle glaucoma risk can be assessed by measuring intraocular pressure (IOP) or optic nerve head vertical...
7.
Diaz-Torres S, He W, Yu R, Khawaja A, Hammond C, Hysi P, et al.
Nat Commun . 2024 Nov; 15(1):9959. PMID: 39551815
Primary open-angle glaucoma typically presents as two subtypes. This study aimed to elucidate the shared and distinct genetic architectures of normal-tension (NTG) and high-tension glaucoma (HTG), motivated by the need...
8.
He W, Vosa U, Palumaa T, Ong J, Torres S, Hewitt A, et al.
Hum Mol Genet . 2024 Nov; 34(2):140-147. PMID: 39535071
Purpose: This study aimed to develop and validate a comprehensive polygenic risk score (PRS) for keratoconus, enhancing the predictive accuracy for identifying individuals at increased risk, which is crucial for...
9.
Chaurasia A, Liu G, Greatbatch C, Gharahkhani P, Craig J, Mackey D, et al.
Eye (Lond) . 2024 Nov; 39(1):109-117. PMID: 39501004
Importance: Worldwide, glaucoma is a leading cause of irreversible blindness. Timely detection is paramount yet challenging, particularly in resource-limited settings. A novel, computer vision-based model for glaucoma screening using fundus...
10.
Diaz-Torres S, Lee S, Garcia-Marin L, Campos A, Lingham G, Ong J, et al.
Nat Commun . 2024 Oct; 15(1):9116. PMID: 39438440
Age-related cataracts is a highly prevalent eye disorder that results in the clouding of the crystalline lens and is one of the leading causes of visual impairment and blindness. The...