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.

Retinitis pigmentosa GTPase regulator (RPGR) gene sequence variants account for most of X-linked retinitis pigmentosa (XLRP). Symptoms such as nyctalopia typically begin in childhood, with increasing loss of peripheral visual field during teenage years, and progressive loss of central vision later in the disease process. RPGR is involved in ciliary function, with ciliary dysfunction now recognised as the mechanism underlying a large proportion of inherited retinal disease. There has been significant progress in identifying animal models to define the underlying disease mechanisms and to test gene replacement therapy. This progress, combined with advances in human retinal imaging, have culminated in multiple on-going gene therapy clinical trials. This review summarizes the molecular genetics, protein function, clinical phenotypes, animal models and the clinical trials for RPGR-associated RP.