Expanding the genotypic and phenotypic spectra with a novel variant in the ciliopathy gene, <i>CFAP410</i> , associated with selective cone degeneration
The non-syndromic cone dystrophy phenotype reported herein expands the genotypic and phenotypic spectra of <i>CFAP410</i>-associated ciliopathies and highlights the need for light of potential future genetic therapies.
Authors
- Jennifer Whitfield
- Samantha Roshani De Silva (ORCID: https://orcid.org/0000-0002-4455-2814)
- Morag E. Shanks
- Grace A. Borchert (ORCID: https://orcid.org/0000-0002-1395-6875)
- Robert E. MacLaren (ORCID: https://orcid.org/0000-0002-3096-4682)
- Jasmina Cehajic‐Kapetanovic (ORCID: https://orcid.org/0000-0002-9956-6412)
- Kanmin Xue (ORCID: https://orcid.org/0000-0003-0065-9131)
- Susan M. Downes (ORCID: https://orcid.org/0000-0001-7373-2665)
- Jennifer A. Thompson (ORCID: https://orcid.org/0000-0003-3553-6457)
- Sian Sperring
- Shabnam Raji (ORCID: https://orcid.org/0009-0003-6779-5194)
- Penny Clouston
Institutions
- Nuffield Orthopaedic Centre (GB)
- Sir Charles Gairdner Hospital (AU)
- University of Oxford (GB)
- Oxford University Hospitals NHS Trust (GB)
Publication Details
- Journal
- Ophthalmic Genetics
- Published
- 2024-09-04
- DOI
- https://doi.org/10.1080/13816810.2024.2369271
- Citations
- 1
- Primary Topic
- Genetic and Kidney Cyst Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.55
Funders
- UK Research and Innovation
- National Institute for Health and Care Research
- University of Oxford
- Medical Research Council