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Fig. 3 | Orphanet Journal of Rare Diseases

Fig. 3

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

Fig. 3

Multimodal imaging of RPGR Early-Onset Severe Retinal Dystrophy (EOSRD) and her RPGR Carrier daughter. Patient 5: a, b Color Fundus Photographs (CFP) with mid-peripheral bone spicule pigmentation, arteriolar attenuation and waxy disc pallor in both eyes. c, d Fundus autofluorescence (FAF) imaging with bilateral peripheral signal reduction and diffuse atrophy. e, f Loss of outer retinal architecture outside of the foveal center and foveal hypoplasia. The patient had a left choroidal neovascular membrane (b), which is visible on FAF as an area with a speckled appearance, of increased and decreased signal (d). A small part of the membrane is visible on the transfoveal optical coherence tomography (OCT), nasal to the foveal center (f). RPGR-Carrier (daughter of Patient 5): g, h CFP with slight granular RPE changes in both maculae and tapetal-like reflex (TLR) typical of X-linked carrier status, i–j FAF imaging with TLR extending radially from the fovea. k–l OCT imaging with intact structure and increased reflectivity of the outer retinal bands. m Full-field ERG (ffERG) and pattern ERG (PERG) recordings from the right (RE) and left (LE) eye of Patient 5, compared with recordings from a representative unaffected control subject (n). ffERGs are consistent with a severe photoreceptor dystrophy affecting both rods and cones. The standard PERG P50 is undetectable in keeping with severe macular involvement. Patient traces are superimposed to demonstrate reproducibility. Broken lines replace blink artefacts that occur after the DA10.0 ERG

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