PMC6925664_01
Fundus images from patients with biallelic mutations in SPATA7. Representative fundus images show yellowish-white frosted degeneration in the midperiphery in patient F01-II:1 (A and B) and yellowish-white sand-like deposits in the midperiphery sparing the inferior area close to the optic fissure (C-F), in addition to yellowish-white mottled degeneration in the midperiphery (G-I). The homozygous novel mutation c.367C>T was identified in the F05-II:1, which is highlighted in red in G and H.
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Tiny spot-like RPE atrophy formed a frosted appearance in the midperipheral retina (Figure 2A,B). A peculiar, novel fundus change was observed in two affected siblings when they were aged 2 years and 4 months (F03-II:1) and 1 year and 4 months (F03-II:2), with yellowish-white sand-like deposits in the midperipheral retina (Figure 2C-F). The posterior fundus and optic disc were relatively normal, except slightly attenuated retinal arterioles (Figure 2C-F). In addition, diffuse and mottling hypopigmentation in the midperipheral retina was observed in probands from two families (F05-II:1, Figure 2G,H; F07-II:1, Figure 2I).
PMC6925664_02
Fundus images showing age-dependent changes in a patient (F07-II:1). The fundus appeared nearly normal in the posterior area, with a few minor grayish-white spots in the midperiphery at the age of 3 years and 5 months (A), and progressed to significant yellowish-white spots in the midperiphery at the age of 7 years and 5 months (B, C). By the age of 8 years and 7 months, diffuse mottling hypopigmentation, with a few small intraretinal pigments, was visible (D-I). Mild salt-and-pepper-like changes were observed (E, H).
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F07. Fundus images for F07-II:1 were obtained when the patient was aged 3 years and 5 months (Figure 3 A), 7 years and 5 months (Figure 3B,C), and 8 years and 7 months (Figure 3D-I). The proband attended our clinic at the ages of 3 years and 5 months due to a complaint of "bumping into obstacles." Ocular examination revealed a relatively normal posterior retina (Figure 3A), with a few minor grayish-white spots in the midperiphery. By the time the child was 7 years and 5 months, the grayish-white spots on the midperipheral retina were clearly obvious (Figure 3B,C). At the age of 8 years and 7 months, diffuse and mottling hypopigmentation with a few small intraretinal pigments of midperipheral retina was visible, displaying a salt-and-pepper appearance in the focal area (Figure 3D-I).