Clinical Characteristics of Patients With Less Common Causes of Leber Congenital Amaurosis/Early-Onset Severe Retinal Dystrophy
The detailed genetic and phenotypic characteristics of patients with LCA due to four rare genes are described. Cross-sectional and longitudinal analysis contribute to our understanding of these rare diseases, aiming at improving patient diagnosis, prognostication, and management.
Authors
- Michel Michaelides (ORCID: https://orcid.org/0000-0002-1552-7046)
- Malena Daich Varela (ORCID: https://orcid.org/0000-0003-4960-4510)
- Vishanna Balbirsingh
Institutions
- Moorfields Eye Hospital NHS Foundation Trust (GB)
- The Royal Free Hospital (GB)
- Moorfields Eye Hospital (GB)
- University College London (GB)
Publication Details
- Journal
- American Journal of Ophthalmology
- Published
- 2025-04-26
- DOI
- https://doi.org/10.1016/j.ajo.2025.04.019
- Primary Topic
- Retinal Development and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- NIHR Biomedical Research Centre, Royal Marsden NHS Foundation Trust/Institute of Cancer Research
- Moorfields Eye Hospital NHS Foundation Trust
- UCL Institute of Ophthalmology, University College London
- National Institute for Health Research Biomedical Research Centre at Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology