PMC9843229_01
Pedigree of the patient.
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There was no family history of ocular diseases (Figure 1).
Fundus photography using Recam III system for a 2-year-old boy in the right eye (a) and left eye (b). Atrophic areas were originated from the optic papilla, which distributed in a radiated pattern along the venous vessels. The vascular surface was wrapped and covered by osteocytes-like pigmentation. The macular region was not involved.
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The macular region was not involved (Figure 2).
Findings of FFA. (a and b) FFA findings at venous phase in right eye and left eye. There was fluorescence in the atrophic area along the venous vessels originated from optic disk in both eyes. The fluorescence was covered by osteocytes-like pigmentation. The macular region was not involved. (c-f) Findings of FFA at advanced phase in right eye and left eye indicated no significant leakage in the posterior pole. Besides, staining and leakage were seen in the peripheral vessels in both eyes.
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The fluorescence was covered in the pigmentation area (Figure 3).
Sequence chromatograms of the family with c.2592T > G:p.Y864* mutation (a) and c.154C > T:p.R52* mutation (b) in RPGRIP1. 21Y04856: patient, 21Y04856FU0: father, and 21Y04856MU0: mother.
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Berry Genomics with specific primers (Table A1, Figure 4a and b). Based on the ACMG criteria, the variants were considered to be pathogenic for the pathogenesis of PPRCA.