Ophthalmic examination with dilated fundus examination (DFE): an eye care practitioner can measure visual acuity and note characteristics of Choroideremia by viewing the retina in the back of the eye.
Fluorescein angiography (FA): fluorescein dye is injected intravenously into the patient’s arm allowing the dye to travel to retinal blood vessels, displaying blood flow, as well as, if any blood vessels are leaking.
Ocular coherence tomography (OCT): ultrasound scan of the retinal layers, which may display thinning and later, cysts, in patients with Choroideremia.
OCT angiography (OCTA): similar to an OCT, ultrasound scan of retinal layers, but including retinal and choroidal blood vessel visualization.4
Electroretinogram (ERG): measures the function of the retina based on responses to flashes, which can detect retinal disease prior to changes in appearance of the retina.5
Fundus auto-fluorescence (FAF): non-invasive retinal imaging that can detect retinal dystrophies and diseases early on.6
Visual field testing, commonly Humphrey Visual Field (HVF): clicker test that maps out a patient’s visual field, which can appear constricted and patchy in patients with Choroideremia, depending on disease severity and progression.
Genetic testing: available for the mutations that causes Choroideremia.4