Ocular Characteristics of Patients with Leber Congenital Amaurosis 6 Caused by Pathogenic RPGRIP1 Gene Variation in a Chinese Cohort

Figure 2

Fundus photography, fundus autofluorescence imaging, and foveal optical coherence tomography scans of probands from the LCA6 families. The fundus image of both eyes in case 1 (a: right eye), the pigment mottling pattern, symmetry atrophy of the retina at the inferior-nasal area, and AF of the right eye (e: right eye). Hypofluorescence is coincident with an area of the retina atrophy, mottled pigmentary (white narrow), and hyperfluorescent boundary (red narrow). The SD-OCT scan showed that the ellipsoid zone is preserved in the central macular that marks the horizontal length with a yellow line, 1579 μm and 1805 μm, respectively (blue arrows; i: right eye, m: left eye). The boundary line of the ellipsoid zone (red arrow) between the reserved and atrophy areas (i: right eye, m: left eye). Fundus photographs (b right eye) and autofluorescence (f: right eye) of case 2 indicate both eyes are close to normal, while the SD-OCT of both eyes (j: right eye, n: left eye) shows that the adjacent lamellar structure is thinner and that there is a preserved ellipsoid zone within a 6 mm horizontal length (blue narrows, yellow line). The case 3 fundus (c: right eye) does not show an abnormality, but the enlarged hypofluorescence area of the macula (green arrow), hyperfluorescent ring (red arrow) around the optic disc, and the subtemporal mottled hyperfluorescence (yellow box) (g: right eye). The OCT shows the thinning of all retinal layers and blurred ellipsoid areas (blue arrows and yellow line; k: right eye, o: left eye). The fundus image of case 4, peripheral pigmentation, and the pigment change (d: right eye). The AF of the right eye shows that except for a concentric hyperfluorescent area (hyperfluorescent ring), it is coincident with an area of no retinal pigmentation and pigmentary deposits in the remaining area of the retina (h: right eye). The OCT shows that both eyes of all layers are unrecordable, including the disappearing ellipsoid zone in the foveal area (blue arrows; l: right eye, p: left eye). The fundus photographs in case 5 show attenuated retinal vessels and a mottled pigmentary change (q: right eye).