PMC10196110_01
Fundus photography, FFA, and OCT images of the patient. (A,B), a cherry-red spot with a ring of whitish infiltrate within a 1-2 PD area surrounding the fovea (dotted red squares). (C,D) normal retinal vessels without obstruction. (E,F) thickened and increased reflectivity of the inner retinal layers with a shadowing effect on the outer structures (red arrows). It was difficult to distinguish the inner retinal structure.
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F1
Color fundus photography (RetCam III, Natus Medical, USA) showed a cherry-red spot with a ring of whitish infiltrate surrounding both macula (Figures 1A,B). FFA showed normal retinal circulation and vessels (Figures 1C,D). It was difficult to distinguish the inner retinal structure (Figures 1E,F).
Exon 2 deletion in GM2A. A schematic representation of the deletion detected in the GM2A gene. The deleted region is represented by dotted lines, whereas the intact region is represented by solid lines. The downward arrows indicate the breakpoints of the deletion.
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F2
The parents of the patient had heterozygous mutations in the same genetic locus (Figure 2).