Fig. 1
From: Stargardt disease-associated in-frame ABCA4 exon 17 skipping results in significant ABCA4 function
Multimodal imaging of both eyes of the proband. A–D Analysis at baseline performed at proband’s age of 49 years. (OD, oculus dexter or right eye; OS, oculus sinister or left eye) (A′, A″) Color fundus photographs reveal extensive macular atrophy with some pigment clumps more noticeable on the right eye along the border of the atrophy. There is some retro foveal retinal tissue remaining. B′, B″ Fundus autofluorescence (FAF) images where a large amount of hyperautofluorescent coalescent flecks is evident extending outside the vascular arcades but remaining within the posterior pole. The foveal sparing is greater on the right eye. Peripapillary sparing is present in both eyes. C′, C″ Spectral domain optical coherence tomography (SD-OCT) scan images passing through the fovea, shows clumping of the retinal pigment epithelium and extensive atrophy of the external retinal layers with retro foveal sparing. D′, D″ Fluorescein angiography mid phase images of the posterior pole. A window defect is present on both eyes in the areas presenting atrophy and beyond the posterior pole choroidal silence is present. This is not noticeable on the posterior pole due to the large amount of coalescent flecks. E, G FAF images of the macular region dating from presentation at proband’s age of 49, 54 and 59 years. The progression of the atrophy is evident. F, H SD-OCT scans passing through the fovea show loss of retinal tissue corresponding to the progression of central atrophy