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Fig. 1 | Orphanet Journal of Rare Diseases

Fig. 1

From: Compound heterozygous inheritance of two novel COQ2 variants results in familial coenzyme Q deficiency

Fig. 1

Multimodal Imaging of COQ2 Associated Rod-Cone Dystrophy. a Wide-field color fundus photographs demonstrating a pale optic nerve, attenuation of the vessels, and bony spicules in the periphery and midperiphery of the retina in the youngest proband. b Wide-field fundus autofluorescence images show hypoautofluorescence in the periphery with a ring of hyperautofluorescence in the macular region in the youngest proband. c Spectral-domain optical coherence tomography (SD-OCT) unveils retinal thinning due to atrophy of the outer retinal layers with regions of blurred or absent ellipsoid zone. Corresponding wide-field color fundus photographs, wide-field fundus autofluoresecence, and SD-OCT images showing similar findings in the affected brother (d–f), and affected sister (g–I)

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172