Choroideremia (CHM) is associated with progressive degeneration of the retinal pigment epithelium (RPE), choriocapillaris (CC), and photoreceptors. As animal models of CHM are lacking, most information about cell survival has come from imaging affected patients. This chapter discusses a combination of imaging techniques, including fundus-guided microperimetry, confocal and non-confocal adaptive optics scanning laser ophthalmoscopy (AOSLO), fundus autofluorescence (FAF), and swept-source optical coherence tomography angiography (SS-OCTA) to analyze macular sensitivity, cone photoreceptor outer and inner segment structure, RPE structure, and CC perfusion, respectively. Combined imaging modalities such as those described here can provide sensitive measures of monitoring retinal structure and function in patients with CHM.
Keywords: Adaptive optics scanning laser ophthalmoscopy; Choriocapillaris; Choroideremia; Degeneration; Fundus autofluorescence; Microperimetry; Optical coherence tomography; Photoreceptors; Retinal pigment epithelium.