Evaluation begins with a careful history of systemic and visual symptoms. Important parts of the history include age of onset, laterality, nyctalopia (night blindness), hemeralopia (day blindness), and visual distortion. A family history is critical and can help narrow the differential diagnosis and later guide genetic testing. Examination includes visual acuity and field testing, as well as a detailed fundus examination. The evaluation is often supplemented by imaging that includes color fundus photography, spectral domain ocular coherence tomography (OCT), blue autofluorescence (BAF), and near-infrared autofluorescence (NrAF).
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