A 10-year-old Girl with an 8-Month History of Progressive Photophobia and Hemeralopia
We present a case of autoimmune retinopathy in a CGD patient with compound heterozygous mutations in the NCF1 gene. This novel association may suggest that autoimmunity may be involved the development of the chorioretinal lesions seen in CGD patients. It also supports the use of rituximab in the management of autoimmune retinopathy.
Authors
- Jeffrey A. Bailey (ORCID: https://orcid.org/0000-0002-6899-8204)
- Stephen H. Tsang (ORCID: https://orcid.org/0000-0001-9082-2427)
- Man‐Shan Kong (ORCID: https://orcid.org/0000-0002-9092-4906)
- Jin Kyun Oh (ORCID: https://orcid.org/0000-0002-5350-9412)
- Chanakarn Piamjitchol (ORCID: https://orcid.org/0009-0009-4705-4587)
- Abdhel Exinor
- Noah Heaps
Institutions
- Columbia University Irving Medical Center (US)
Publication Details
- Journal
- Retinal Cases & Brief Reports
- Published
- 2025-09-23
- DOI
- https://doi.org/10.1097/icb.0000000000001818
- Primary Topic
- Neutrophil, Myeloperoxidase and Oxidative Mechanisms
- Type
- article
- Field-Weighted Citation Impact
- 0.00