PMC7472914_01
PMC7472914_02
Fundus photography, fundus autofluorescence, and optical coherence scanning images (OCT) of the patient's retina. Fundus photography of right (A) and left (B) eyes demonstrates a granular appearance of the macula bilaterally (white arrows). No attenuation of retinal blood vessels can be observed. Fundus autofluorescence of right eye (C) and left eye (D) demonstrates increased autofluorescence of the fovea bilaterally (white arrows). OCT of right (E) and left (F) eye shows irregularity of the ellipsoid zone as well as an interdigitation zone in the macular region (white arrows).
fgene-11-00938-g001.jpg
PMC7472914_02_fgene-11-00938-g001.jpg
fig1
Fundus examination revealed irregularity of the retinal pigment in the foveal region but normal peripheral retinal appearance, optic discs, and blood vessel caliber (Figures 1A-D). Ocular coherence tomography (OCT) scanning of the macula demonstrated irregularity of the ellipsoid zone, including the photoreceptors bilaterally (Figures 1E,F).
Kinetic visual fields and electroretinogram (ERG) results. (A) Kinetic visual fields of the patient's eyes shows marked central loss of sensitivity with some constriction of the peripheral visual field compared to the reference (control). (B) Full field ERG of both eyes were performed according to the ISCEV (International Society for clinical Electrophysiology of vision) standard. Undetectable full field cone ERGs (light adapted LA 3.0 and LA 30 Hz) with subnormal dark adapted (DA 0.01 rod specific) and bright flash dark adapted (DA 10.0) compared to the reference (control is shown as small-integrated panels within each upper panels) is demonstrated.
fgene-11-00938-g002.jpg
PMC7472914_02_fgene-11-00938-g002.jpg
fig2
Peripheral visual fields demonstrated mild loss of peripheral vision and loss of sensitivity in the central retina (Figure 2A). Hz flicker responses. However, full dark-adapted rod responses were present, in keeping with an isolated cone dystrophy (Figure 2B).