Genetic Testing for Inherited Retinal Dystrophies: Current Status and Challenges

Abstract

Inherited retinal dystrophies (IRDs) are a group of disorders characterized by genetic and phenotypic heterogeneity and are among the major hereditary diseases in ophthalmology. In 2023, gene replacement therapy for RPE65-associated retinal dystrophy was approved in Japan, and genetic testing to determine treatment eligibility was introduced into the national health insurance system, significantly changing the role of genetic testing in IRD clinical practice. This review outlines the clinical and genetic background of IRDs and describes the current framework for genetic testing, including testing implementation, variant interpretation, and remaining challenges.

Although genetic testing is now available nationwide, access to genetic diagnosis remains limited for many patients with IRDs due to restricted testing indications, geographic disparities among testing facilities, and shortages of trained personnel. In addition, unresolved cases persist because of limitations in current analytic methods and challenges in variant interpretation. Future efforts to expand testing indications, develop human resources, reduce regional disparities in clinical infrastructure, and advance genomic technologies are expected to further enhance the role of genetic diagnosis in IRD management.