SNRNP200- Associated Retinopathy: In-Depth Clinical Phenotyping and Genetic Characterization
This report represents the largest cohort of patients with SNRNP200-associated retinopathy, with the longest follow-up. Longitudinal analysis shows a preserved central retina until the 6th decade of life. These findings provide critical insights for patient counselling, identifying clinical endpoints, and guiding therapeutic development.
Authors
- Angelos Kalitzeos
- Kaoru Fujinami (ORCID: https://orcid.org/0000-0003-4248-0033)
- Juan C. Romo-Aguas (ORCID: https://orcid.org/0000-0001-5293-8103)
- Michel Michaelides
- Yu Fujinami‐Yokokawa (ORCID: https://orcid.org/0000-0001-7555-5797)
- Yannik Laich (ORCID: https://orcid.org/0000-0002-2313-1666)
- Anthony G. Robson (ORCID: https://orcid.org/0000-0002-8391-6123)
- Thales A. C. de Guimarães (ORCID: https://orcid.org/0000-0002-7936-6851)
- Omar A. Mahroo (ORCID: https://orcid.org/0000-0003-1254-0832)
- Michalis Georgiou (ORCID: https://orcid.org/0000-0001-6397-8071)
- Andrew R. Webster (ORCID: https://orcid.org/0000-0001-6915-9560)
- Eduardo Di Piero
Institutions
- Moorfields Eye Hospital NHS Foundation Trust (GB)
- Duke University (US)
- Dr. M.G.R. Educational and Research Institute (IN)
- Tokyo Medical Center (JP)
- Hospital Federal dos Servidores do Estado (BR)
- University College London (GB)
Publication Details
- Journal
- American Journal of Ophthalmology
- Published
- 2025-08-18
- DOI
- https://doi.org/10.1016/j.ajo.2025.08.015
- Primary Topic
- RNA regulation and disease
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Wellcome Trust
- NIHR Biomedical Research Centre, Royal Marsden NHS Foundation Trust/Institute of Cancer Research
- National Institute for Health and Care Research
- Moorfields Eye Hospital NHS Foundation Trust
- Moorfields Eye Charity
- National Institutes of Health