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Fig. 2 | Orphanet Journal of Rare Diseases

Fig. 2

From: Consanguinity-based analysis of exome sequencing yields likely genetic causes in patients with inherited retinal dystrophy

Fig. 2

Clinical manifestations of non-RP patients. A Fundus photos of F7-III:4 diagnosed with CORD revealed an enlargement of the optic cup with a C/D of 0.4, decrease of neuroretinal rim width in the inferior and superior, attenuated retinal vasculature, and retinal pigment epithelium (RPE) changes over the macular region. OCT showed the absence of foveal photoreceptors and RPE. B Fundus and OCT of F8-III:5 diagnosed with CORD presented Bull’s eye maculopathy with loss of foveal photoreceptor and a blurred outer layer structure. C Fundus and OCT images of F9-III:2 diagnosed with BCD showed bilateral multiple crystalline deposits and RPE dystrophy with loss of photoreceptors. D Fundus images of F10-III:1 diagnosed with LCA exhibited show a waxy pallor optic disc, attenuated retinal vasculature, and extensive chorioretinal atrophy. E Full-field ERG of F7-III:4 manifested a significantly decreased amplitude of cones while the response of rods declined slightly in both eyes. F Visual field test of F7-III:4 revealed a serious impairment of the central visual field

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172