Fig. 1

Representative Fundus, Autofluorescence and SD-OCT images of STGD1 patients. The panels (I, II, III) represent the images of Fundus, AF and SD-OCT of case IDs: 27, 24, and 25, respectively. Panel I: a Fundus photos of the patient’s right eye. The black arrow indicates the atrophic lesions at the macula. b Corresponding fundus autofluorescence image in the central area represents hypoautofluorescence (white arrow), with surrounding flecks showing hyper and hypoautofluorescence. c SD-OCT image indicates foveal thinning (blue arrow) and the loss of outer retinal layers (red arrows). Panel II: d Fundus photos of the patient’s right eye denoting the central atrophic macula (black arrow). e AF shows the corresponding area of central hypoautofluorescence (white arrow) and hyperautofluorescence of flecks. f SD-OCT image indicates the foveal thinning (blue arrow) and the loss of photoreceptors centrally (red arrows). Panel III: g Fundus photos of the patient’s right eye. The image represents the central atrophic macula (black arrows) as well as the extensive loss of choriocapillaries and RPE atrophy throughout the macula and beyond. h AF shows large areas of hypoautofluorescence (white arrows). i Central foveal thinning (blue arrow) and loss of photoreceptors was evident upon SD-OCT imaging (red arrows).