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Fig. 2 | Orphanet Journal of Rare Diseases

Fig. 2

From: Extending the phenotypic spectrum of PRPF8, PRPH2, RP1 and RPGR, and the genotypic spectrum of early-onset severe retinal dystrophy

Fig. 2

Multimodal imaging in RP1 Early-Onset Severe Retinal Dystrophy (EOSRD). Multimodal imaging of two siblings with RP1-EOSRD. Patient 3: a, b Color Fundus Photographs (CFP) with bilateral macular retinal pigment epithelial (RPE) disturbance with mid-peripheral RPE migration. g–h Patient 4: CFP with bilateral macular retinal pigment epithelial disturbance (mid-peripheral RPE migration was not captured in this field of view). Optical Coherence Tomography (OCT) and fundus autofluorescence (FAF) findings were similar for both patients. c, d and i, j FAF imaging revealed bilateral peripheral signal reduction, with distinct-punctate atrophic areas in the mid-periphery and increased foveal signal. Patient 3 also had a perifoveal ring of atrophy. e, f and k, l OCT imaging demonstrated loss of outer retinal architecture and foveal hypoplasia

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172