Carrier frequency and incidence estimation of RPE65-associated inherited retinal diseases in East Asian population by population database-based analysis

Abstract Background Inherited retinal diseases (IRDs) are clinically and genetically heterogenous disorders leading to visual impairment and blindness. Because gene therapy for RPE65-associated IRDs was recently approved, it is necessary to predict the carrier frequency and prevalence for RPE65-asso...

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Bibliographic Details
Main Authors: Eun Hye Cho, Jong Eun Park, Taeheon Lee, Kyeongsu Ha, Chang-Seok Ki
Format: Article
Language:English
Published: BMC 2022-11-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Online Access:https://doi.org/10.1186/s13023-022-02566-5