Unilateral maculopathy associated with autosomal dominant bestrophinopathy
Autosomal dominant variants in the <i>BEST1</i> gene can manifest as unilateral disease. In such cases, it is important to conduct genetic testing promptly to confirm the presence of bestrophinopathy. When counseling the patient, it is essential to discuss the potential for future anatomical involvement in the unaffected eye.
Authors
- Miguel Cruz-Pimentel (ORCID: https://orcid.org/0000-0003-0581-7514)
- Kenneth T. Eng
- Tom Wright (ORCID: https://orcid.org/0000-0001-5071-9978)
- Brian G. Ballios (ORCID: https://orcid.org/0000-0002-4644-3339)
Institutions
- Sunnybrook Health Science Centre (CA)
- University Health Network (CA)
- University of Toronto (CA)
- Health Sciences Centre (CA)
- Kensington Health (CA)
Publication Details
- Journal
- Ophthalmic Genetics
- Published
- 2025-06-24
- DOI
- https://doi.org/10.1080/13816810.2025.2521657
- Primary Topic
- Retinal Development and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Retina Research Foundation