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. 2023 Nov 8;108(4):495–505. doi: 10.1136/bjo-2022-323071

Figure 1.

Figure 1

Representative cases of Stargardt disease (STGD1). Typical findings of Stargardt disease (STGD1; A–C). Fundus photograph of the right eye showing macular atrophy with yellow-white flecks at the level of the retinal pigment epithelium (RPE; A). Fundus autofluorescence (FAF) imaging identified an area of decreased autofluorescence (DAF) at the macula and multiple surrounding foci of abnormal AF (B). Spectral-domain optical coherence tomography (SD-OCT) demonstrated marked loss of outer retinal layers and RPE at the macula, with multiple hyper-reflective foci corresponding to flecks (C). A broad range of FAF patterns and progression over time in STGD1 are presented, with corresponding fundus photographs (D–T). FAF pattern can be classified into three types based on the area(s) of DAF and the background features (heterogeneous or homogeneous): type 1 (Baseline; F) to type 2 (follow-up; G), type 1 (baseline; J) to type 2 (follow-up; K), type 2 (baseline; M) to type 2 (follow-up; N), type 2 (baseline; P) to type 3 (follow-up; Q), type 3 (baseline; S) to type 3 (follow-up; T). Genetic information (ABCA4, Transcript ID: NM_000350.3; ENST00000370225.4): Case 1 (top row; : c.4139C>T, p.Pro1380Leu. Case 2 (second row; D–G): c.3322C>T, p.Arg1108Cys; c.6079C>T, p.Leu2027Phe. Case 3 (third row; H–K): c.768G>T; c.2588 G>C, p.Gly863Ala. Case 4 (fourth row;I–N): Unavailable. Case 5 (fifth row; O–Q): c.1622T>C, p.Leu541Pro; c.3113C>T, p.Ala1038Val; c.617_618delCG, p.Ser206ArgfsTer320. Case 6 (bottom row; R–T): c.5461–10T>C. *Permission to reuse the figure for publication in the journal has been obtained by the licensed content publisher, Springer Nature (Number: 5415100406042; License date: 23 October 2022).