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The diagnosis of Stargardt’s disease often requires a number of tests and examinations. These include an Ophthalmologist examining the back of the eyes, visual acuity, visual field and colour vision tests. Different methods are used to take images of the retina including fundus autofluorescence (FAF) to see the structure of the retina and optical coherence tomography (OCT) which looks at the layers of the retina. An electroretinogram (ERG) assesses retinal function.

Genetic testing can also now help to clarify the diagnosis, although testing does not yet identify the genetic cause of the condition in all cases (2017).