Inherited retinal disorders (IRDs) comprise a genetically and phenotypically diverse group of degenerative diseases that affect photoreceptors and the retinal pigment epithelium (RPE). Early manifestations of disease can be clinically subtle, so imaging has become essential for timely and effective diagnosis. The expansion of gene-based and molecular-based therapies has further underscored the importance of identifying reliable biomarkers and characterizing the natural history of diseases. Multimodal imaging including fundus autofluorescence (FAF), near-infrared autofluorescence (NIR-AF), optical coherence tomography (OCT), color fundus photography, and other modalities such as fluorescein angiography, and OCT angiography (OCTA) are helpful for establishing a clinical diagnosis and monitoring for progression.
As an increasing number of IRD patients are being identified and referred for genetic testing and counseling, clinicians would benefit from a practical and efficient framework for integrating multimodal imaging into their diagnoses and management. This review summarizes the utility of multimodal imaging across IRDs.
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