PMC9098211_01
Clinical presentations in the right eye (OD) and left eye (OS) of the patient. (A) Manifestation of Kayser-Fleischer (K-F) ring and sunflower-like cataract. (B) Fundus images of osteocyte-like pigmentation (white arrows) in bilateral retina. (C) Optical coherence tomography (OCT) showing outer retina atrophy and cystoid macular edema. (D) Vision detection featuring binocular tunnel vision.
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F1
Slit lamp biomicroscopy (SL-D8Z; Topcon Corporation, Tokyo, Japan) revealed bilateral corneal K-F ring and sunflower-like cataract (Figure 1A). Corporation, Tokyo, Japan) showed thinner retinal blood vessels and retinal osteocyte-like pigmentation in bilateral eyes (Figure 1B). Cystoid macular edema (CME) and outer retina atrophy was observed in both eyes via optical coherence tomography (OCT) (Figure 1C). Visual field examination (Octopus 900, Haag-Streit, USA) revealed binocular tunnel vision (Figure 1D). The BCVA remains 0.8 logMAR for both eyes at her last visit (Supplementary Figure 1).
Pedigree of the patient's family. (A)
CNGA1 variant family pedigree. Circles represent females and the square represents the male. The filled circle represents the patient with RP. The proband is indicated by a black arrow, while A represents a mutation. (B) Partial sequence of ATP7B gene locus of the proband (II-2) and the unaffected family members (I-1 and I-2). The columnar graphics indicate the site of the variant. (C) Partial sequence of the family's CNGA1 gene locus. (D) Partial sequence of the family's RP2 gene locus. (E) Partial sequence of the family's SNRNP200 gene locus.
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F2
Whole exome sequencing (WES, by Beijing Giantmed medical diagnostics Lab) was performed on the patient and her parents (Figures 2A-E).