POC1B-associated cone-rod dystrophy with bilateral optic disc swelling: A novel clinical observation
Bilateral optic disc swelling is a rare manifestation in COD/CORD and is rarely reported in association with <i>POC1B</i> variants. Our cases expand the phenotypic spectrum of <i>POC1B</i>-associated retinopathies and highlight the importance of considering optic disc swelling as a possible, albeit rare, feature in COD/CORD.
Authors
- Enam Danish
- Nooran Badeeb
- Faeeqah Almhmoudi
- Noha Bamardouf
- Abdulrahman Alsaidi
Institutions
- King Fahd Armed Forces Hospital (SA)
- King Abdul Aziz University Hospital (SA)
- National Guard Health Affairs (SA)
Publication Details
- Journal
- American Journal of Ophthalmology Case Reports
- Published
- 2025-10-23
- DOI
- https://doi.org/10.1016/j.ajoc.2025.102456
- Primary Topic
- Retinal Diseases and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.00