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Fig. 2 | BMC Ophthalmology

Fig. 2

From: Identification of a novel RPGR mutation associated with X-linked cone-rod dystrophy in a Chinese family

Fig. 2

Clinical examinations of the proband and his mother. a The Optos widefield color fundus imaging of the proband (III:1, 32 years old) showed peripheral chorioretinal atrophy, macular dystrophy and mild RPE proliferation in the macular region in the proband. The autofluorescent imaging of the proband showed a hyperfluorescent lesion at the perifoveal and temporal quadrant areas and dot-like hypofluorescence around the lesion. b The Optos widefield color fundus imaging and the autofluorescent imaging of the carrier (II:2, 53 years old) were normal. c-d The OCT images of the proband (III:1) in the macular region showed outer retinal and choroidal atrophy, disrupted ellipsoid band and cavities in the choroid vessel and diffuse atrophy of Sattler layer. While the carrier (II:2) was normal. e The visual field examination suggested central and peripheral visual field defect of the proband (III:1). f ERG analysis demonstrated that the scotopic rod responses were undetectable, while the photopic responses were barely able to detect in the proband (III:1)

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