Jonathan Ruddle

Is the disease risk and penetrance in Leber hereditary optic neuropathy actually low?

David A Mackey, Jue-Sheng Ong, Stuart MacGregor, David C Whiteman, Jamie E Craig, M Isabel, G Lopez-Sanchez, Lisa S Kearns, Sandra E Staffieri, Linda Clarke, Myra B McGuinness, Wafaa Meteoukki, Sona Samuel, Jonathan B Ruddle, Celia Chen, Clare L Fraser, John Harrison, Neil Howell, Alex W Hewitt

Journal article  |  2023  |  AMERICAN JOURNAL OF HUMAN GENETICS

Pedigree analysis showed that a large proportion of Leber hereditary optic neuropathy (LHON) family members who carry a mitochondr..

Thrombospondin 1 missense alleles induce extracellular matrix protein aggregation and TM dysfunction in congenital glaucoma.

Haojie Fu, Owen M Siggs, Lachlan Sw Knight, Sandra E Staffieri, Jonathan B Ruddle, Amy E Birsner, Edward Ryan Collantes, Jamie E Craig, Janey L Wiggs, Robert J D'Amato

Journal article  |  2022  |  J Clin Invest

Glaucoma is a highly heritable disease that is a leading cause of blindness worldwide. Here, we identified heterozygous thrombospo..

Lysosomal alterations and decreased electrophysiological activity in CLN3 disease patient-derived cortical neurons

Sueanne Chear, Sharn Perry, Richard Wilson, Aidan Bindoff, Jana Talbot, Tyson L Ware, Alexandra Grubman, James C Vickers, Alice Pebay, Jonathan B Ruddle, Anna E King, Alex W Hewitt, Anthony L Cook

Journal article  |  2022  |  DISEASE MODELS & MECHANISMS

CLN3 disease is a lysosomal storage disorder associated with fatal neurodegeneration that is caused by mutations in CLN3, with mos..

Phase 2 Study of Neoadjuvant FGFR Inhibition and Androgen Deprivation Therapy Prior to Prostatectomy.

Elizabeth Liow, Nicholas Howard, Chol-Hee Jung, Bernard Pope, Bethany K Campbell, Anne Nguyen, Michael Kerger, Jonathan B Ruddle, Angelyn Anton, Benjamin Thomas, Kevin Chu, Philip Dundee, Justin S Peters, Anthony J Costello, Andrew S Ryan, Christopher M Hovens, Ben Tran, Niall M Corcoran

Journal article  |  2022  |  Clin Genitourin Cancer

BACKGROUND: Disease recurrence is common following prostatectomy in patients with localised prostate cancer with high-risk feature..

The phenotypic spectrum of ADAMTSL4-associated ectopia lentis: Additional cases, complications, and review of literature

Lachlan SW Knight, Sean Mullany, Deepa A Taranath, Jonathan B Ruddle, Christopher P Barnett, Suzanne CEH Sallevelt, Ella C Berry, Henry N Marshall, Georgina L Hollitt, Emmanuelle Souzeau, Jamie E Craig, Owen M Siggs

Journal article  |  2022  |  MOLECULAR VISION

PURPOSE: ADAMTSL4-associated ectopia lentis is a rare autosomal recessive condition that is primarily associated with crystalline ..

Pathogenic genetic variants identified in Australian families with paediatric cataract

Johanna L Jones, Bennet J McComish, Sandra E Staffieri, Emmanuelle Souzeau, Lisa S Kearns, James E Elder, Jac C Charlesworth, David A Mackey, Jonathan B Ruddle, Deepa Taranath, John Pater, Theresa Casey, Jamie E Craig, Kathryn P Burdon

Journal article  |  2022  |  BMJ OPEN OPHTHALMOLOGY

OBJECTIVE: Paediatric (childhood or congenital) cataract is an opacification of the normally clear lens of the eye and has a genet..

Comparison of Anterior Segment Abnormalities in Individuals With FOXC1 and PITX2 Variants

Mallika Prem Senthil, Lachlan SW Knight, Deepa Taranath, David A Mackey, Jonathan B Ruddle, Mark Y Chiang, Owen M Siggs, Emmanuelle Souzeau, Jamie E Craig

Journal article  |  2022  |  CORNEA

PURPOSE: Axenfeld-Rieger syndrome encompasses a group of developmental disorders affecting the anterior chamber structures of the ..

Victorian evolution of inherited retinal diseases natural history registry (VENTURE study): Rationale, methodology and initial participant characteristics

Alexis Ceecee Britten-Jones, Fleur O'Hare, Thomas L Edwards, Lauren N Ayton

Journal article  |  2022  |  CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY

BACKGROUND: Emerging treatments are being developed for inherited retinal diseases, requiring a clear understanding of natural pro..

Childhood and early-onset glaucoma classification and genetic profile in the Australian and New Zealand Registry of Advanced Glaucoma: An update

Lachlan SW Knight, Jonathan B Ruddle, Deepa A Taranath, Ivan Goldberg, James E Smith, Glen Gole, Mark Y Chiang, Faren Willett, Guy D'Mellow, James Breen, Ayub Qassim, Sean Mullany, James E Elder, Andrea L Vincent, Sandra E Staffieri, Lisa S Kearns, David A Mackey, Susie Luu, Owen M Siggs, Emmanuelle Souzeau, et al.

Conference Proceedings  |  2022  |  CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY

Establishing risk of vision loss in Leber hereditary optic neuropathy

M Isabel G Lopez Sanchez, Lisa S Kearns, Sandra E Staffieri, Linda Clarke, Myra B McGuinness, Wafaa Meteoukki, Sona Samuel, Jonathan B Ruddle, Celia Chen, Clare L Fraser, John Harrison, Alex W Hewitt, Neil Howell, David A Mackey

Journal article  |  2021  |  AMERICAN JOURNAL OF HUMAN GENETICS

We conducted an updated epidemiological study of Leber hereditary optic neuropathy (LHON) in Australia by using registry data to e..