Bifocal retinal degeneration observed on ultra-widefield autofluorescence in some cases of CRX-associated retinopathy
We report a distinct pattern of bifocal retinal degeneration in some cases of CRX-associated retinopathy (12% in our cohort), not typically seen in other forms of inherited retinal disease. Recognising such phenotypes can guide genetic investigations or their interpretation, facilitating molecular diagnoses for effective family counselling, given the autosomal dominant inheritance and phenotypic variability of CRX-associated retinopathy.
Authors
- Siying Lin (ORCID: https://orcid.org/0000-0003-1122-8396)
- Anthony G. Robson (ORCID: https://orcid.org/0000-0002-8391-6123)
- Elena Schiff (ORCID: https://orcid.org/0000-0002-9848-1302)
- Omar A. Mahroo (ORCID: https://orcid.org/0000-0003-1254-0832)
- Michel Michaelides (ORCID: https://orcid.org/0000-0002-1552-7046)
- Gavin Arno (ORCID: https://orcid.org/0000-0002-6165-7888)
- Andrew R. Webster (ORCID: https://orcid.org/0000-0001-6915-9560)
- Moin Mohamed
Institutions
- St Thomas' Hospital (GB)
- University College of Osteopathy (GB)
- National Institute for Health and Care Research (GB)
- Greenwood Genetic Center (US)
- Moorfields Eye Hospital (GB)
- University College London (GB)
Publication Details
- Journal
- Eye
- Published
- 2024-12-04
- DOI
- https://doi.org/10.1038/s41433-024-03522-2
- Citations
- 2
- Primary Topic
- Retinal Development and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.47
Funders
- Wellcome Trust
- National Institute for Health and Care Research
- Fight for Sight UK
- Moorfields Eye Hospital NHS Foundation Trust
- Moorfields Eye Charity
- NIHR Sheffield Biomedical Research Centre