Determination of the Population Frequency of Monoallelic and Biallelic Predicted Pathogenic <i>RPE65</i> Variants in a Normal Database
Biallelic RPE65-associated retinopathy affects at least 1 in 665,856 of the population, but is more common in Admixed Americans (1 in 264,196) and African Americans (1 in 287,296).
Authors
- Xiaoyi Liu (ORCID: https://orcid.org/0009-0002-9664-403X)
- Kwang‐Dong Choi (ORCID: https://orcid.org/0000-0002-9373-4710)
- Heather G. Mack (ORCID: https://orcid.org/0000-0001-9756-1098)
- Mary Huang
- Judy Savige (ORCID: https://orcid.org/0000-0002-6813-0288)
- Rahman Abdul (ORCID: https://orcid.org/0009-0001-1193-8518)
Institutions
- Northern Health (AU)
- The Royal Victorian Eye & Ear Hospital (AU)
- Melbourne Health (AU)
Publication Details
- Journal
- Investigative Ophthalmology & Visual Science
- Published
- 2025-08-29
- DOI
- https://doi.org/10.1167/iovs.66.11.73
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00