Figure 4 of de Freitas Cenachi, Mol Vis 2025; 31:526-537.


Figure 4. Multimodal imaging of patients carrying RP-associated gene variants: PCARE (P31), PRPF8 (P37), EYS (P26, P28), and CHM. Images include fundus autofluorescence (FAF; A and D) and fundus photography (B and C). Panels A and B correspond to the right eye; panels C and D correspond to the left eye. In patients P31 (PCARE) and P37 (PRPF8), FAF images (P31A, P31D; P37A, P37D) show hypoautofluorescent patches surrounding the arcades, corresponding to areas of retinal pigmentation and atrophy that may be less evident on color fundus photography (P31B, P31C; P37B, P37D). In patients P26 and P28, both harboring EYS variants, distinct FAF patterns previously associated with this gene were observed: a “broad-banded hyperautofluorescent leading edge” in P26 and an “infinity sign” in P28. Fundus photographs of these patients demonstrate peripheral pigmentation, vascular attenuation, and optic disc pallor in both patients. In the patient with a pathogenic CHM variant (choroideremia), FAF imaging revealed scalloped mid-peripheral chorioretinal atrophy—a hallmark feature of the disease. Fundus photography displayed overlapping features with RP, including peripheral pigmentation, vessel narrowing, and optic disc pallor. RP, retinitis pigmentosa.