Siggs Owen M

Hollitt Georgina L, Cohen-Woods Sarah, Siggs Owen M, Craig Jamie E, Souzeau Emmanuelle

49% of eligible individuals over 50 years old took polygenic risk tests for glaucoma. Family history, urban residence, and education predicted uptake. This provides crucial real-world insight for implementing genetic risk stratification in clinical practice.

Hollitt Georgina L, Keane Miriam C, Nguyen Thi T, Hassall Mark M, Siggs Owen M, Craig Jamie E et al.

Australian healthcare professionals, despite low familiarity with glaucoma polygenic risk testing, showed positive attitudes towards its use, highlighting a critical need for education to support clinical implementation.

Greatbatch Connor J, Lu Qinyi, Hung Sandy, Tran Son N, Wing Kristof, Liang Helena et al.

AI analyzed human trabecular meshwork cells with IOP-linked gene knockouts. It found LTBP2 and BCAS3 significantly altered cell morphology, offering a new way to identify glaucoma-causing genes.

Siggs Owen M, Qassim Ayub, Han Xikun, Marshall Henry N, Mullany Sean, He Weixiong et al.

High polygenic risk in early POAG was linked to faster visual field worsening despite treatment, suggesting PRS could identify patients needing more intensive monitoring and care.

Hollitt Georgina L, Siggs Owen M, Ridge Bronwyn, Keane Miriam C, Mackey David A, MacGregor Stuart et al.

This study found strong interest (71.3%) in glaucoma genetic risk assessment among unaffected individuals, particularly those concerned about the disease or proactive about eye health. This supports integrating polygenic risk scores into clinical practice.

Siggs Owen M, Han Xikun, Qassim Ayub, Souzeau Emmanuelle, Kuruvilla Shilpa, Marshall Henry N et al.

This study compared monogenic and polygenic glaucoma risks, finding high polygenic risk is as significant as single-gene mutations, more common, and associated with similar diagnosis age, making it clinically important for risk stratification.

Mullany Sean, Xiao Lewis, Qassim Ayub, Marshall Henry, Gharahkhani Puya, MacGregor Stuart et al.

This study found normal-tension glaucoma patients had significantly higher rates of cognitive impairment than high-tension glaucoma patients, suggesting shared disease mechanisms and relevance for screening.

Qassim Ayub, Souzeau Emmanuelle, Siggs Owen M, Hassall Mark M, Han Xikun, Griffiths Helen L et al.

This study found that a polygenic risk score for intraocular pressure predicts higher maximum IOP, earlier glaucoma diagnosis, more severe disease requiring surgery, and more affected family members.

Siggs Owen M, Souzeau Emmanuelle, Taranath Deepa A, Dubowsky Andrew, Chappell Angela, Zhou Tiger et al.

Biallelic CPAMD8 variants are a frequent cause (up to 5.7%) of childhood and juvenile open-angle glaucoma, often with other eye abnormalities. Genetic testing for CPAMD8 should be considered for these patients.

Siggs Owen M, Souzeau Emmanuelle, Pasutto Francesca, Dubowsky Andrew, Smith James E H, Taranath Deepa et al.

This study found FOXC1 variants in 6.1% of suspected PCG cases, revealing subtle Axenfeld-Rieger syndrome features. This supports genetic testing for accurate diagnosis and management of childhood glaucoma.

Han Xikun, Souzeau Emmanuelle, Ong Jue-Sheng, An Jiyuan, Siggs Owen M, Burdon Kathryn P et al.

This study found the MYOC p.Gln368Ter variant significantly increases glaucoma risk, especially advanced forms. Its penetrance varies by population and disease severity, highlighting its importance for genetic screening and risk stratification.

Zhou Tiger, Souzeau Emmanuelle, Siggs Owen M, Landers John, Mills Richard, Goldberg Ivan et al.

This study found rare gene variants in 22.9% of early-onset POAG cases, with MYOC being the largest genetic cause. This highlights genetic testing's role in diagnosing early-onset glaucoma.

Souzeau Emmanuelle, Hayes Melanie, Zhou Tiger, Siggs Owen M, Ridge Bronwyn, Awadalla Mona S et al.

This study found CYP1B1 mutations are enriched in juvenile open-angle glaucoma patients with advanced visual field loss, indicating these mutations contribute to severe, earlier-onset disease and warrant genetic testing.