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Fig. 2 | Orphanet Journal of Rare Diseases

Fig. 2

From: Novel gene variants in Polish patients with Leber congenital amaurosis (LCA)

Fig. 2

Photographs I.—Retinal features of Patient 6–18. a, b Color fundus photographs show bilateral mottled fundus appearance, foveal atrophy with focal pigmentary changes in the macula and peripheral regions (bone-spicule pigmentation), and attenuation of the vasculature and optic nerve pallor. c a 6-mm horizontal SD-OCT image of the right eye showing substantial photoreceptor loss, retinal architecture disorganization with thinning of outer layers, and enhanced choroidal signal penetration (the scan acquired above the fovea due to poor fixation). d 10 × 3.5 mm horizontal SD-OCT macular scan of the left eye demonstrating severe photoreceptor loss, focal RPE hypertrophy, and generalized retinal thinning. Photographs II.—Retinal features of Patient 13–54. a, b Color fundus images showing bilateral fine chorioretinal atrophy around the pale optic nerve with moderate vascular attenuation as well as fine peripheral pigmentary changes. c, d 10 × 3.5 mm horizontal SD-OCT scans showing intact foveal contour and symmetrical moderate thinning of outer retinal layers with enhanced choroidal signal penetration

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