Precision Medicine in Inherited Retinal Disease: Advances, Challenges, and Future Directions.

Background/

Objectives

Inherited retinal diseases (IRDs) represent a group of rare conditions characterized by significant clinical and genetic heterogeneity. Historically, the diagnosis of these conditions relied primarily on clinical presentation and imaging techniques. This literature review aims to discuss the current state of progress and ongoing challenges in applying precision medicine approaches to IRDs and to examine how advances in genetic testing have transformed diagnostics and opened new therapeutic avenues.

Methods

This review examines the application of genetic testing methods to IRDs, with particular focus on next-generation sequencing (NGS) technologies. The review also evaluates current patient selection protocols that combine genetic confirmation, retinal structural evaluation, and detailed genetic counselling to achieve optimal therapeutic outcomes.

Results

The implementation of NGS has significantly enhanced diagnostic capabilities for IRDs by enabling precise identification of specific genetic mutations. This advancement has paved the way for targeted therapeutic strategies, exemplified by Luxturna for RPE65-related IRDs. However, several barriers to broader adoption of precision medicine persist, including high costs, varied access to services, and complexities in interpreting genetic variants.

Conclusions

While the continued development of innovative therapeutic modalities offers promise for expanding treatment options for IRDs, fully harnessing the potential of current and emerging therapeutic technologies requires addressing existing economic, technological, educational, and infrastructural challenges.