case_images: PMC9424670_01
case_images: (A) Color fundus photography revealed a macular bull's eye appearance with small pisciform yellow-white flecks scattered within the posterior pole on both eyes. (B) Fundus autofluorescence (FAF) revealed a central area of macular hypoautofluorescence along with retinal flecks extending centrifugally and appearing hypoautofluorescent in the center and hyperautofluorescent in the periphery. The peripapillary sparing retina should be noted, as demonstrated by fundus autofluorescence.
case_images: fgene-13-949437-g001.jpg
case_images: PMC9424670_01_fgene-13-949437-g001.jpg
case_images: F1
case_images: Color fundus photography revealed a macular bull's eye appearance with small pisciform yellow-white flecks scattered within the posterior pole (Figure 1A). The peripapillary sparing retina should be noted, as demonstrated by fundus autofluorescence (Figure 1B). The pedigree and allele segregation is shown in Supplementary Figure S1.
case_images: High-resolution spectral domain optical coherence tomography (SD-OCT) demonstrated decreased retinal thickness, particularly at the foveola, with loss of inner and outer photoreceptor segment layers and hyper-reflective deposits below the RPE corresponding to flecks.
case_images: fgene-13-949437-g002.jpg
case_images: PMC9424670_01_fgene-13-949437-g002.jpg
case_images: F2
case_images: High-resolution spectral domain optical coherence tomography (SD-OCT) demonstrated decreased retinal thickness, particularly at the foveola with the loss of inner and outer photoreceptor segment layers and hyper-reflective deposits below the RPE corresponding to flecks (Figure 2).
case_images: Electroretinogram with subnormal rod response and severe reduction of cone response.
case_images: fgene-13-949437-g003.jpg
case_images: PMC9424670_01_fgene-13-949437-g003.jpg
case_images: F3
case_images: Electroretinogram records show subnormal rod and cone responses with severely reduced amplitude and implicit time, especially evident in flicker response (Figure 3).