Secondary Ophthalmic Features Represent Diagnostic Clues and Potential Points of Intervention for Inherited Retinal Diseases (Target 5000 Report 3)
SOFs are common in patients with IRDs and most are amenable to therapeutic intervention even when no primary treatment (e.g., gene therapy) is available. We highlight patterns associated with genotypes and disease groups which may aid harmonisation of clinical and genetic diagnoses.
Authors
- Laura Whelan (ORCID: https://orcid.org/0000-0002-0537-4349)
- Marcus Conway
- Julia Zhu (ORCID: https://orcid.org/0000-0001-6769-0577)
- Jacqueline A. Turner (ORCID: https://orcid.org/0000-0002-6638-1956)
- G. Jane Farrar (ORCID: https://orcid.org/0000-0002-9959-1992)
- David Keegan (ORCID: https://orcid.org/0000-0002-8620-9563)
- James J. O’Byrne (ORCID: https://orcid.org/0000-0003-3162-2411)
- Adrian Dockery (ORCID: https://orcid.org/0000-0002-3423-2542)
- Ian Flitcroft (ORCID: https://orcid.org/0000-0002-7004-6026)
- Kirk Stephenson (ORCID: https://orcid.org/0000-0002-7462-7725)
- Bridget Moran (ORCID: https://orcid.org/0000-0002-7222-8739)
Institutions
- University College Dublin (IE)
- Trinity College Dublin (IE)
- Mater Misericordiae University Hospital (IE)
- Children's Health Ireland at Crumlin (IE)
- Technological University Dublin (IE)
Publication Details
- Journal
- Genes
- Published
- 2025-12-01
- DOI
- https://doi.org/10.3390/genes16121433
- Primary Topic
- Retinal Development and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Medical Research Charities Group
- Health Research Charities Ireland
- Science Foundation Ireland