Structural evaluation in inherited retinal diseases

Ophthalmic genetics is a field that has been rapidly evolving over the last decade, mainly due to the flourishing of translational medicine for inherited retinal diseases (IRD). In this review, we will address the different methods by which retinal structure can be objectively and accurately assessed in IRD. We review standard-of-care imaging for these patients: colour fundus photography, fundus autofluorescence imaging and optical coherence tomography (OCT), as well as higher-resolution and/or newer technologies including OCT angiography, adaptive optics imaging, fundus imaging using a range of wavelengths, magnetic resonance imaging, laser speckle flowgraphy and retinal oximetry, illustrating their utility using paradigm genotypes with on-going therapeutic efforts/trials.

Automated summary

Ophthalmic genetics has rapidly evolved in the past decade, particularly in translational medicine for inherited retinal diseases. This review discusses various methods for objectively and accurately assessing retinal structure in IRD patients, including standard imaging techniques and newer technologies, showing their utility in ongoing therapeutic efforts/trials.