Fig. 1

Multimodal imaging of PRPF8 and PRPH2 Early-Onset Severe Retinal Dystrophy (EOSRD). Multimodal imaging of: a–f Patient 1 with PRPF8-EOSRD and (g–l) Patient 2 with PRPH2-EOSRD. Patient 1: a, b Color Fundus Photographs (CFP) showing bilateral optic disc pallor, generalised retinal vascular attenuation, with retinal bone spicule formation in the periphery, c, d fundus autofluorescence (FAF) imaging with diffuse decreased signal and increased signal at the fovea, and e–f Optical Coherence Tomography (OCT) imaging showing diffuse loss of the ellipsoid zone (EZ), with residual EZ observed only at the foveal center, and preservation of the inner retinal layers. Patient 2: g–h CFP showing minimal mid-peripheral pigment migration, i–j FAF imaging with a relatively normal pattern, and k–l OCT imaging with loss of the EZ beyond the foveal center and preservation of the inner retinal layers