Fig. 2
Ophthalmologic findings in patients with pathogenic variants in THRB in our IRD-cohort. (A) Patient IV:2 from Family 1: A1, A2, A4 and A5 correspond to Optos pseudocolour fundus autofluorescence images of the right eye (A1, A2) and left eye (A4, A5). A3 and A6 correspond to SD-OCT of the right and left macula, respectively. (B) Patient III:4 from Family 2: B1, B2 (right eye) and B4, B5 (left eye) represent her Optos pseudocolour wide-field images, and B3 (right eye) and B6 (left eye) correspond to her SD-OCT Spectralis scans. (C) Patient IV:1 from Family 3: SD-OCT Spectralis scans images are shown of the right (C1, C2) and left (C4, C5) eye. C3 and C6 represent SD-OCT scans of both maculae. (D) Patient III:7 from Family 3: Optos pseudocolour wide-field images of the right (D1, D2) and left (D4, D5) eye are shown. D3 and D6 correspond to SD-OCT Spectralis scans of the right and left macula, respectively. (E) Patient V:3 from Family 3: E1, E2 and E4, E5 correspond to Optos pseudocolour wide-field images of the right (E1, E2) and left (E4, E5) maculae. E3 and E6 are SD-OCT Spectralis scans of the right and left macula, respectively. (F) Patient IV:12 from Family 3: Optos pseudocolour wide-field imaging of the right (F1, F2) and left (F4, F5); and SD-OCT Spectralis scans of the right (F3) and left (F6) macula, showing granularity of the ellipsoid zone subfoveally in both eyes. (G) Patient III:4 from Family 3: Both images represent SD-OCT scans of the right (G1) and left (G2) maculae. (H) Patient IV:7 from Family 3: Cirrus HD OCT images of the right (H1) and left (H2) eyes.
