Review Articles
Progress in Translating Glaucoma Genetics into the Clinic: A Review
Kolovos, A., Maxwell, G., Souzeau, E. and Craig, J.E. (2025), Progress in Translating Glaucoma Genetics Into the Clinic: A Review. Clin Exp Ophthalmol, 53: 246-259.
Link to Wiley Online Library Article (Open Access)
Polygenic Risk Scores Driving Clinical Change in Glaucoma.
Kolovos A, Hassall MM, Siggs OM, Souzeau E, Craig JE. Polygenic Risk Scores Driving Clinical Change in Glaucoma. Annu Rev Genomics Hum Genet. 2024 Aug;25(1):287-308. doi: 10.1146/annurev-genom-121222-105817. Epub 2024 Aug 6.
Link to Annual Reviews Article (Open Access)
Research Publications
Glaucoma
Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression.
Craig, J.E., Han, X., Qassim, A. et al. Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression. Nat Genet 52, 160-166 (2020).
Link to Nature Article Abstract
Association of Monogenic and Polygenic Risk with the Prevalence of Open-Angle Glaucoma
Siggs OM, Han X, Qassim A, et al. Association of Monogenic and Polygenic Risk With the Prevalence of Open-Angle Glaucoma. JAMA Ophthalmol. 2021;139(9):1023-1028. doi:10.1001/jamaophthalmol.2021.2440
Link to JAMA Network Article Abstract
High Polygenic Risk is Associated with Earlier Initiation and Escalation of Treatment in Early Primary Open Angle Glaucoma. Ophthalmology
Marshall HN, et al. (2023). High Polygenic Risk is Associated with Earlier Initiation and Escalation of Treatment in Early Primary Open Angle Glaucoma. Ophthalmology. Aug;130(8):830-836.
Link to American Academy of Ophthalmology Article Abstract
High Polygenic Risk is Associated with Earlier Trabeculectomy in Patients with Primary Open Angle Glaucoma
Marshall HN, et al. (2022). High Polygenic Risk is Associated with Earlier Trabeculectomy in Patients with Primary Open-Angle Glaucoma, Ophthalmology Glaucoma, 6 (1), 54-57.
Link to ScienceDirect Article Abstract
A Multitrait Open-Angle Glaucoma Polygenic Risk Score Stratifies Risk of Glaucoma Diagnosis and Severity in Eyes with Pseudoexfoliation
A multitrait polygenic risk score for open-angle glaucoma stratifies risk of pigmentary glaucoma in pigment dispersion syndrome
Kolovos A, et al. (2025). A multitrait polygenic risk score for open-angle glaucoma stratifies risk of pigmentary glaucoma in pigment dispersion syndrome. Ophthalmol Glaucoma. 2025 Oct 21:S2589-4196(25)00216-9.
Link to Ophthalmology Glaucoma Article
Age-related macular degeneration
Genome-Wide Meta-analysis Identifies Risk Loci and Improves Disease Prediction of Age-Related Macular Degeneration.
He W et al. (2024) Genome-Wide Meta-analysis Identifies Risk Loci and Improves Disease Prediction of Age-Related Macular Degeneration. Ophthalmology. 2024 Jan;131(1):16-29.
Predictive Performance of an Updated Polygenic Risk Score for Age-Related Macular Degeneration.
Yu C, et al (2024). Predictive Performance of an Updated Polygenic Risk Score for Age-Related Macular Degeneration. Ophthalmology. 2024 Aug;131(8):880-891.
Review Articles
Progress in Translating Glaucoma Genetics into the Clinic: A Review
Kolovos, A., Maxwell, G., Souzeau, E. and Craig, J.E. (2025), Progress in Translating Glaucoma Genetics Into the Clinic: A Review. Clin Exp Ophthalmol, 53: 246-259.
Link to Wiley Online Library Article (Open Access)
Polygenic Risk Scores Driving Clinical Change in Glaucoma.
Kolovos A, Hassall MM, Siggs OM, Souzeau E, Craig JE. Polygenic Risk Scores Driving Clinical Change in Glaucoma. Annu Rev Genomics Hum Genet. 2024 Aug;25(1):287-308. doi: 10.1146/annurev-genom-121222-105817. Epub 2024 Aug 6.
Link to Annual Reviews Article (Open Access)
Research Publications
Glaucoma
Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression.
Craig, J.E., Han, X., Qassim, A. et al. Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression. Nat Genet 52, 160-166 (2020).
Link to Nature Article Abstract
Association of Monogenic and Polygenic Risk with the Prevalence of Open-Angle Glaucoma
Siggs OM, Han X, Qassim A, et al. Association of Monogenic and Polygenic Risk With the Prevalence of Open-Angle Glaucoma. JAMA Ophthalmol. 2021;139(9):1023-1028. doi:10.1001/jamaophthalmol.2021.2440
Link to JAMA Network Article Abstract
High Polygenic Risk is Associated with Earlier Initiation and Escalation of Treatment in Early Primary Open Angle Glaucoma. Ophthalmology
Marshall HN, et al. (2023). High Polygenic Risk is Associated with Earlier Initiation and Escalation of Treatment in Early Primary Open Angle Glaucoma. Ophthalmology. Aug;130(8):830-836.
Link to American Academy of Ophthalmology Article Abstract
High Polygenic Risk is Associated with Earlier Trabeculectomy in Patients with Primary Open Angle Glaucoma
Marshall HN, et al. (2022). High Polygenic Risk is Associated with Earlier Trabeculectomy in Patients with Primary Open-Angle Glaucoma, Ophthalmology Glaucoma, 6 (1), 54-57.
Link to ScienceDirect Article Abstract
A Multitrait Open-Angle Glaucoma Polygenic Risk Score Stratifies Risk of Glaucoma Diagnosis and Severity in Eyes with Pseudoexfoliation
A multitrait polygenic risk score for open-angle glaucoma stratifies risk of pigmentary glaucoma in pigment dispersion syndrome
Kolovos A, et al. (2025). A multitrait polygenic risk score for open-angle glaucoma stratifies risk of pigmentary glaucoma in pigment dispersion syndrome. Ophthalmol Glaucoma. 2025 Oct 21:S2589-4196(25)00216-9.
Link to Ophthalmology Glaucoma Article