Sex Distributions in the Most Frequent Autosomal Genetic Causes of Retinitis Pigmentosa
We observed a significant preponderance of female patients for PRPF31-associated RP and a preponderance of male patients in those with EYS-associated RP. Our findings suggest that sex is likely to be a modifier affecting penetrance in PRPF31-associated disease and might act in the opposite direction in disease associated with EYS.
Authors
- Siying Lin (ORCID: https://orcid.org/0000-0003-1122-8396)
- Mark Hughes (ORCID: https://orcid.org/0000-0002-2168-0514)
- Terri L. McLaren (ORCID: https://orcid.org/0000-0003-3195-669X)
- Fred K. Chen (ORCID: https://orcid.org/0000-0003-2809-9930)
- Elena Schiff (ORCID: https://orcid.org/0000-0002-9848-1302)
- Gavin Arno
- Omar A. Mahroo (ORCID: https://orcid.org/0000-0003-1254-0832)
- Michel Michaelides (ORCID: https://orcid.org/0000-0002-1552-7046)
- Tina M. Lamey (ORCID: https://orcid.org/0000-0002-4608-4073)
- Jennifer A. Thompson (ORCID: https://orcid.org/0000-0003-3553-6457)
- Kirk Stephenson (ORCID: https://orcid.org/0000-0002-7462-7725)
- Nikolas Pontikos (ORCID: https://orcid.org/0000-0003-1782-4711)
- Panagiotis I. Sergouniotis
- Mariya Moosajee (ORCID: https://orcid.org/0000-0003-1688-5360)
- Malena Daich Varela (ORCID: https://orcid.org/0000-0003-4960-4510)
- Ajoy Vincent (ORCID: https://orcid.org/0000-0001-6446-3846)
- Andrew R. Webster (ORCID: https://orcid.org/0000-0001-6915-9560)
Institutions
- Lions Eye Institute (AU)
- St Thomas' Hospital (GB)
- The University of Melbourne (AU)
- The University of Western Australia (AU)
- University of Toronto (CA)
- University of Cambridge (GB)
- Hospital for Sick Children (CA)
- Sir Charles Gairdner Hospital (AU)
- Manchester University NHS Foundation Trust (GB)
- Centre for Eye Research Australia (AU)
- St Mary's Hospital (GB)
- Evolutionary Genomics (United States) (US)
- SickKids Foundation (CA)
- Greenwood Genetic Center (US)
- Moorfields Eye Hospital (GB)
- University College London (GB)
Publication Details
- Journal
- Investigative Ophthalmology & Visual Science
- Published
- 2025-08-29
- DOI
- https://doi.org/10.1167/iovs.66.11.77
- Primary Topic
- Retinal Development and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Wellcome Trust
- UK Research and Innovation
- National Institute for Health and Care Research
- Sight Research UK
- Fight for Sight UK
- Moorfields Eye Hospital NHS Foundation Trust
- Moorfields Eye Charity
- Manchester Biomedical Research Centre
- Medical Research Council