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Fig. 2 | Orphanet Journal of Rare Diseases

Fig. 2

From: A multidisciplinary approach to inherited retinal dystrophies from diagnosis to initial care: a narrative review with inputs from clinical practice

Fig. 2

Fundus photography and optical coherence tomography (OCT)/ fundus autofluorescence (FAF) of pediatric patients showing silent fundus images, but evocative OCT and FAF picture of early-onset inherited retinal dystrophy (IRD). A, B: Fundus image and FAF of early onset IRD in an 8-year-old child with rod-cone dystrophy. Note the hyperautofluorescence ring at the posterior pole in FAF. C, D: Fundus image and OCT scan of a 5-year-old child with early-stage ABCA4 maculopathy. Note the thickening of the outer limiting membrane (red arrows). E, F: Fundus image of a 10-year-old child (brother of C, D) showing silent fundus image but clear altered ellipsoid zone and macular atrophy

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172